Variant (rsID / SNP)
rs117907409
rs117907409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1S. Location: chromosome 12, position 7,173,893. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
C1SConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:7173893
- Cytoband
- 12p13.31
- HGVS
- NM_001734.5(C1S):c.943G>A (p.Asp315Asn)
- Allele change
- Missense_D148N
Associated conditions / phenotypes
Complement component C1s deficiency|Ehlers-Danlos syndrome, periodontal type 2|Complement component C1s deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.