Variant (rsID / SNP)

rs139208806

rs139208806 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM1. Location: chromosome 14, position 24,730,989. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TGM1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:24730989
Cytoband: 14q12
HGVS: NM_000359.3(TGM1):c.420A>G (p.Ile140Met)
Allele change: Missense_I140M

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.