Variant (rsID / SNP)

rs35985214

rs35985214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM5. Location: chromosome 15, position 43,527,819. Clinical significance in the table: Benign.

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Reference-table entries

TGM5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:43527819
Cytoband: 15q15.2
HGVS: NM_201631.4(TGM5):c.1562A>G (p.Gln521Arg)
Allele change: Missense_Q521R

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.