Variant (rsID / SNP)

rs267606631

rs267606631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTG1. Location: chromosome 17, position 79,478,295. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ACTG1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:79478295
Cytoband: 17q25.3
HGVS: NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)
Allele change: Missense_E241K

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 20|Rare genetic deafness|Hearing impairment

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.