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Variant (rsID / SNP)

rs146696590

GRXCR1

rs146696590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRXCR1. Location: chromosome 4, position 43,032,469. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GRXCR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:43032469
Cytoband
4p13
HGVS
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln)
Allele change
Missense_R262Q

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 25

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.