LRMDA Chromosome 10
Leucine rich melanocyte differentiation associated
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What This Gene Does
This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
10q22.2-q22.3
Ensembl
ENSG00000148655
Associated Conditions (2)
Oculocutaneous albinism type 7
LRMDA-related disorder
Key Variants
RS146123023
Conflicting classifications of pathogenicity
Health Risk
RS147768808
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 7, Oculocutaneous albinism type 7
Health Risk
RS565236615
Conflicting classifications of pathogenicity
Health Risk
RS2492796553
Likely pathogenic
Health Risk
RS587776952
Likely pathogenic
Oculocutaneous albinism type 7, Oculocutaneous albinism type 7
Health Risk
RS769661892
Likely pathogenic
Health Risk
RS878854351
Likely pathogenic
Oculocutaneous albinism type 7, Oculocutaneous albinism type 7
Health Risk
RS1564576117
Pathogenic
Health Risk
RS1840809914
Pathogenic
Health Risk
RS587776953
Pathogenic
Oculocutaneous albinism type 7, LRMDA-related disorder, Oculocutaneous albinism type 7
Health Risk
RS779169360
Pathogenic
Health Risk
RS886043155
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146123023 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147768808 | Health Risk | Conflicting classifications of pathogenicity | Oculocutaneous albinism type 7, Oculocutaneous albinism type 7 |
| RS565236615 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2492796553 | Health Risk | Likely pathogenic | — |
| RS587776952 | Health Risk | Likely pathogenic | Oculocutaneous albinism type 7, Oculocutaneous albinism type 7 |
| RS769661892 | Health Risk | Likely pathogenic | — |
| RS878854351 | Health Risk | Likely pathogenic | Oculocutaneous albinism type 7, Oculocutaneous albinism type 7 |
| RS1564576117 | Health Risk | Pathogenic | — |
| RS1840809914 | Health Risk | Pathogenic | — |
| RS587776953 | Health Risk | Pathogenic | Oculocutaneous albinism type 7, LRMDA-related disorder, Oculocutaneous albinism type 7 |
| RS779169360 | Health Risk | Pathogenic | — |
| RS886043155 | Health Risk | Pathogenic | — |