Variant (rsID / SNP)

rs121909582

rs121909582 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1S. Location: chromosome 12, position 7,177,488. Clinical significance in the table: Uncertain significance.

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Reference-table entries

C1SUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:7177488
Cytoband: 12p13.31
HGVS: NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)
Allele change: Missense_R367W

Associated conditions / phenotypes

Complement component C1s 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.