Variant (rsID / SNP)

rs876657776

rs876657776 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH1. Location: chromosome 5, position 140,903,734. Clinical significance in the table: Pathogenic.

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Reference-table entries

DIAPH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:140903734
Cytoband: 5q31.3
HGVS: NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)
Allele change: Nonsense_R1204X

Associated conditions / phenotypes

Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 1

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.