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Variant (rsID / SNP)

rs41295338

TGM1

rs41295338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM1. Location: chromosome 14, position 24,731,434. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TGM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:24731434
Cytoband
14q12
HGVS
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)
Allele change
Missense_S42Y

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 1

Public references

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