Variant (rsID / SNP)

rs121434422

rs121434422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CERS1, GDF1. Location: chromosome 19, position 18,979,844. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CERS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:18979844
Cytoband: 19p13.11
HGVS: NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
Allele change: Nonsense_C227X

Associated conditions / phenotypes

Congenital heart defects, multiple types, 6|Right atrial isomerism|Progressive myoclonic epilepsy type 8

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.