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Variant (rsID / SNP)

rs121909683

GGCX

rs121909683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GGCX. Location: chromosome 2, position 85,781,392. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GGCXUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
2:85781392
Cytoband
2p11.2
HGVS
NM_000821.7(GGCX):c.763G>A (p.Val255Met)
Allele change
Missense_V198M

Associated conditions / phenotypes

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency|Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency|Vitamin K-dependent clotting factors, combined deficiency of, type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.