Variant (rsID / SNP)

rs121909682

rs121909682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GGCX. Location: chromosome 2, position 85,779,551. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GGCXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:85779551
Cytoband: 2p11.2
HGVS: NM_000821.7(GGCX):c.1427G>A (p.Arg476His)
Allele change: Missense_R419H

Associated conditions / phenotypes

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

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.