LHX3 Chromosome 9
LIM homeobox 3
Upload your DNA to see your personal genotypes for variants in LHX3.
What This Gene Does
This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
LIM class homeoboxes
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000107187
Associated Conditions (5)
LHX3-related disorder
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Combined pituitary hormone deficiencies
genetic form
Inborn genetic diseases
Key Variants
RS146827257
Conflicting classifications of pathogenicity
Health Risk
RS182345541
Conflicting classifications of pathogenicity
LHX3-related disorder, Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies
Health Risk
RS1831682631
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
Health Risk
RS190916587
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
Health Risk
RS200521449
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form
Health Risk
RS201356862
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
Health Risk
RS201591640
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Inborn genetic diseases, Non-acquired combined pituitary hormone deficiency with spine abnormalities
Health Risk
RS369145566
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
Health Risk
RS372058376
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, LHX3-related disorder, Non-acquired combined pituitary hormone deficiency with spine abnormalities
Health Risk
RS375579333
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form
Health Risk
RS376405589
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
Health Risk
RS548140963
Conflicting classifications of pathogenicity
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146827257 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182345541 | Health Risk | Conflicting classifications of pathogenicity | LHX3-related disorder, Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies |
| RS1831682631 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS190916587 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS200521449 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form |
| RS201356862 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS201591640 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Inborn genetic diseases, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS369145566 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS372058376 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, LHX3-related disorder, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS375579333 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form |
| RS376405589 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS548140963 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form |
| RS551180434 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS569254423 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form |
| RS759584117 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS769912904 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form |
| RS771201500 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS886063702 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS886063706 | Health Risk | Conflicting classifications of pathogenicity | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS137854503 | Health Risk | Likely pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form |
| RS1831596883 | Health Risk | Likely pathogenic | — |
| RS1831680321 | Health Risk | Likely pathogenic | — |
| RS2131032901 | Health Risk | Likely pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS2131034777 | Health Risk | Likely pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS2490904308 | Health Risk | Likely pathogenic | — |
| RS2490910176 | Health Risk | Likely pathogenic | — |
| RS2490910186 | Health Risk | Likely pathogenic | — |
| RS2490914173 | Health Risk | Likely pathogenic | — |
| RS2490915887 | Health Risk | Likely pathogenic | — |
| RS2490917462 | Health Risk | Likely pathogenic | — |
| RS969810391 | Health Risk | Likely pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies, genetic form |
| RS104894117 | Health Risk | Pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS1215724215 | Health Risk | Pathogenic | — |
| RS137854504 | Health Risk | Pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS137854505 | Health Risk | Pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS137854506 | Health Risk | Pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS1441753402 | Health Risk | Pathogenic | — |
| RS1831682062 | Health Risk | Pathogenic | — |
| RS2131032918 | Health Risk | Pathogenic | — |
| RS2131033078 | Health Risk | Pathogenic | — |
| RS2131036410 | Health Risk | Pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS2490915299 | Health Risk | Pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS2490918550 | Health Risk | Pathogenic | — |
| RS2490926165 | Health Risk | Pathogenic | — |
| RS2490926232 | Health Risk | Pathogenic | — |
| RS2490926406 | Health Risk | Pathogenic | — |
| RS558712702 | Health Risk | Pathogenic | — |
| RS587776711 | Health Risk | Pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS587776712 | Health Risk | Pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS774533927 | Health Risk | Pathogenic | Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |