Variant (rsID / SNP)

rs886040975

rs886040975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1S. Location: chromosome 12, position 7,173,830. Clinical significance in the table: Pathogenic.

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Reference-table entries

C1SPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:7173830
Cytoband: 12p13.31
HGVS: NM_001734.5(C1S):c.880T>C (p.Cys294Arg)
Allele change: Missense_C127R

Associated conditions / phenotypes

Ehlers-Danlos syndrome, periodontal type 2|Ehlers-Danlos syndrome, periodontal 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.