Variant (rsID / SNP)

rs112292549

rs112292549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM5. Location: chromosome 15, position 43,552,349. 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: 15:43552349
Cytoband: 15q15.2
HGVS: NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)
Allele change: Missense_G113C

Associated conditions / phenotypes

Acral peeling skin syndrome|Inborn genetic diseases

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.