Variant (rsID / SNP)

rs143473912

rs143473912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM1. Location: chromosome 14, position 24,728,950. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGM1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:24728950
Cytoband: 14q12
HGVS: NM_000359.3(TGM1):c.944G>A (p.Arg315His)
Allele change: Missense_R315L

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 1

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.