Variant (rsID / SNP)

rs115677373

rs115677373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM5. Location: chromosome 15, position 43,545,056. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGM5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:43545056
Cytoband: 15q15.2
HGVS: NM_201631.4(TGM5):c.763T>C (p.Trp255Arg)
Allele change: Missense_W255R

Associated conditions / phenotypes

Acral peeling skin syndrome

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.