GRXCR1 Chromosome 4
Glutaredoxin and cysteine rich domain containing 1
Upload your DNA to see your personal genotypes for variants in GRXCR1.
What This Gene Does
This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Glutaredoxin domain containing"
Locus Type
gene with protein product
Location
4p13
Ensembl
ENSG00000215203
Associated Conditions (8)
Autosomal recessive nonsyndromic hearing loss 25
GRXCR1-related disorder
Hearing impairment
Rare genetic deafness
Monogenic hearing loss
Deafness
Hearing loss
autosomal recessive
Key Variants
RS146696590
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 25, GRXCR1-related disorder, Autosomal recessive nonsyndromic hearing loss 25
Health Risk
RS569193097
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS1171186208
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25
Health Risk
RS761349153
Likely pathogenic
Rare genetic deafness, Monogenic hearing loss, Rare genetic deafness
Health Risk
RS1553941938
Pathogenic
Rare genetic deafness, Rare genetic deafness
Health Risk
RS2109775078
Pathogenic
Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25
Health Risk
RS2109812419
Pathogenic
Health Risk
RS2109812443
Pathogenic
Health Risk
RS770874273
Pathogenic
Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25
Health Risk
RS771844359
Pathogenic
Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25
Health Risk
RS1560690591
Pathogenic/Likely pathogenic
Deafness, Hearing loss, autosomal recessive
Health Risk
RS267606855
Pathogenic/Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 25, Hearing loss, autosomal recessive
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146696590 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 25, GRXCR1-related disorder, Autosomal recessive nonsyndromic hearing loss 25 |
| RS569193097 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Hearing impairment |
| RS1171186208 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25 |
| RS761349153 | Health Risk | Likely pathogenic | Rare genetic deafness, Monogenic hearing loss, Rare genetic deafness |
| RS1553941938 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2109775078 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25 |
| RS2109812419 | Health Risk | Pathogenic | — |
| RS2109812443 | Health Risk | Pathogenic | — |
| RS770874273 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25 |
| RS771844359 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25 |
| RS1560690591 | Health Risk | Pathogenic/Likely pathogenic | Deafness, Hearing loss, autosomal recessive |
| RS267606855 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 25, Hearing loss, autosomal recessive |
| RS606231120 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25 |
| RS769983282 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25 |
| RS774844858 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 25, GRXCR1-related disorder, Autosomal recessive nonsyndromic hearing loss 25 |