Variant (rsID / SNP)

rs267606856

rs267606856 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRXCR1. Location: chromosome 4, position 42,964,936. Clinical significance in the table: Pathogenic.

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Reference-table entries

GRXCR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:42964936
Cytoband: 4p13
HGVS: NM_001080476.3(GRXCR1):c.412C>T (p.Arg138Cys)
Allele change: Missense_R138C

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 25

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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