Variant (rsID / SNP)

rs2592551

rs2592551 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GGCX. Location: chromosome 2, position 85,780,131. Clinical significance in the table: Benign.

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Reference-table entries

GGCXBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:85780131
Cytoband: 2p11.2
HGVS: NM_000821.7(GGCX):c.1218C>T (p.Arg406=)
Allele change: Synonymous_R349R

Associated conditions / phenotypes

Vitamin K-dependent clotting factors, combined deficiency of, type 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.