Variant (rsID / SNP)

rs35755034

rs35755034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM1. Location: chromosome 14, position 24,729,687. Clinical significance in the table: Benign.

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Reference-table entries

TGM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:24729687
Cytoband: 14q12
HGVS: NM_000359.3(TGM1):c.726G>A (p.Glu242=)
Allele change: Synonymous_E242E

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.