Variant (rsID / SNP)

rs12540919

rs12540919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSDME. Location: chromosome 7, position 24,756,951. 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: 7:24756951
Cytoband: 7p15.3
HGVS: NM_001127453.2(GSDME):c.619G>A (p.Val207Met)
Allele change: Missense_V207M

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.