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Variant (rsID / SNP)

rs121918718

TGM1

rs121918718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM1. Location: chromosome 14, position 24,730,984. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TGM1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:24730984
Cytoband
14q12
HGVS
NM_000359.3(TGM1):c.425G>A (p.Arg142His)
Allele change
Missense_R142H

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 1|Abnormality of the skin

Public references

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