Variant (rsID / SNP)

rs71535705

rs71535705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSDME. Location: chromosome 7, position 24,742,437. Clinical significance in the table: Benign.

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Reference-table entries

GSDMEBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:24742437
Cytoband: 7p15.3
HGVS: NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val)
Allele change: Missense_A400V

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 5

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.