GRXCR2 Chromosome 5
Glutaredoxin and cysteine rich domain containing 2
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What This Gene Does
This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
Glutaredoxin domain containing
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000204928
Associated Conditions (4)
GRXCR2-related disorder
Autosomal recessive nonsyndromic hearing loss 101
Hearing loss
autosomal recessive
Key Variants
RS151087704
Conflicting classifications of pathogenicity
GRXCR2-related disorder, GRXCR2-related disorder
Health Risk
RS1756441567
Pathogenic
Health Risk
RS587777424
Pathogenic
Autosomal recessive nonsyndromic hearing loss 101, Autosomal recessive nonsyndromic hearing loss 101
Health Risk
RS770833599
Pathogenic
Health Risk
RS773457218
Pathogenic
Hearing loss, autosomal recessive, Hearing loss
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS151087704 | Health Risk | Conflicting classifications of pathogenicity | GRXCR2-related disorder, GRXCR2-related disorder |
| RS1756441567 | Health Risk | Pathogenic | — |
| RS587777424 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 101, Autosomal recessive nonsyndromic hearing loss 101 |
| RS770833599 | Health Risk | Pathogenic | — |
| RS773457218 | Health Risk | Pathogenic | Hearing loss, autosomal recessive, Hearing loss |