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Variant (rsID / SNP)

rs138980048

GSDME

rs138980048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSDME. Location: chromosome 7, position 24,745,864. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GSDMEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:24745864
Cytoband
7p15.3
HGVS
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
Allele change
Synonymous_P374P

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 5

Public references

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