Variant (rsID / SNP)
rs121918725
rs121918725 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM1. Location: chromosome 14, position 24,729,190. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TGM1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:24729190
- Cytoband
- 14q12
- HGVS
- NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)
- Allele change
- Missense_G278R
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.