NBAS Chromosome 2
NBAS subunit of NRZ tethering complex
Upload your DNA to see your personal genotypes for variants in NBAS.
What This Gene Does
This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
NRZ tethering complex
Locus Type
gene with protein product
Location
2p24.3
Ensembl
ENSG00000151779
Associated Conditions (18)
Infantile liver failure syndrome 2
Inborn genetic diseases
NBAS-related disorder
Uterine carcinosarcoma
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Optic atrophy
Retinal dystrophy
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Retinal disorder
Growth failure in early childhood
Neurodevelopmental disorder
See cases
Thyroid cancer
nonmedullary
1
Autosomal recessive NBAS-related disorders
Infantile liver failure
Monogenic short statue
Key Variants
RS1085307944
Conflicting classifications of pathogenicity
Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
Health Risk
RS112301580
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114603112
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1234973742
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS137987698
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138592420
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139067269
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139341177
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139436724
Conflicting classifications of pathogenicity
Health Risk
RS139483814
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139768432
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139954703
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (336)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2528146464 | Health Risk | Likely pathogenic | — |
| RS2528283195 | Health Risk | Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS2528287611 | Health Risk | Likely pathogenic | — |
| RS2528760002 | Health Risk | Likely pathogenic | — |
| RS2528785906 | Health Risk | Likely pathogenic | — |
| RS2528863416 | Health Risk | Likely pathogenic | — |
| RS2528878801 | Health Risk | Likely pathogenic | — |
| RS2529000672 | Health Risk | Likely pathogenic | — |
| RS544319529 | Health Risk | Likely pathogenic | — |
| RS749459870 | Health Risk | Likely pathogenic | — |
| RS752937543 | Health Risk | Likely pathogenic | — |
| RS761703497 | Health Risk | Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS763573768 | Health Risk | Likely pathogenic | Infantile liver failure syndrome 2, Infantile liver failure syndrome 2 |
| RS773409140 | Health Risk | Likely pathogenic | — |
| RS796052121 | Health Risk | Likely pathogenic | Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2 |
| RS890826299 | Health Risk | Likely pathogenic | — |
| RS908833503 | Health Risk | Likely pathogenic | Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome |
| RS968957955 | Health Risk | Likely pathogenic | — |
| RS1047332996 | Health Risk | Pathogenic | — |
| RS1131692171 | Health Risk | Pathogenic | Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Short stature-optic atrophy-Pelger-Huët anomaly syndrome |
| RS1222594800 | Health Risk | Pathogenic | — |
| RS1232631800 | Health Risk | Pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS1234096193 | Health Risk | Pathogenic | — |
| RS1234886272 | Health Risk | Pathogenic | — |
| RS1278049478 | Health Risk | Pathogenic | — |
| RS1319523217 | Health Risk | Pathogenic | — |
| RS1343339242 | Health Risk | Pathogenic | — |
| RS1367543388 | Health Risk | Pathogenic | — |
| RS1377754508 | Health Risk | Pathogenic | — |
| RS1400901127 | Health Risk | Pathogenic | — |
| RS143012720 | Health Risk | Pathogenic | Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS1449768284 | Health Risk | Pathogenic | — |
| RS1478754689 | Health Risk | Pathogenic | See cases, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, NBAS-related disorder |
| RS1487020279 | Health Risk | Pathogenic | — |
| RS149760582 | Health Risk | Pathogenic | — |
| RS1553308501 | Health Risk | Pathogenic | — |
| RS1558275354 | Health Risk | Pathogenic | — |
| RS1558367266 | Health Risk | Pathogenic | — |
| RS1558413043 | Health Risk | Pathogenic | — |
| RS1572813576 | Health Risk | Pathogenic | Infantile liver failure syndrome 2, Infantile liver failure syndrome 2 |
| RS1661730953 | Health Risk | Pathogenic | — |
| RS1667423312 | Health Risk | Pathogenic | — |
| RS1669613513 | Health Risk | Pathogenic | Infantile liver failure syndrome 2, Infantile liver failure syndrome 2 |
| RS1674218963 | Health Risk | Pathogenic | — |
| RS1679766907 | Health Risk | Pathogenic | — |
| RS1680038424 | Health Risk | Pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS1680077561 | Health Risk | Pathogenic | — |
| RS1680162460 | Health Risk | Pathogenic | — |
| RS200179726 | Health Risk | Pathogenic | — |
| RS202020492 | Health Risk | Pathogenic | Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2 |