Variant (rsID / SNP)

rs769707492

rs769707492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1R. Location: chromosome 12, position 7,241,317. Clinical significance in the table: Pathogenic.

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Reference-table entries

C1RPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:7241317
Cytoband: 12p13.31
HGVS: NM_001733.7(C1R):c.927C>G (p.Cys309Trp)
Allele change: Synonymous_C309C

Associated conditions / phenotypes

Ehlers-Danlos syndrome, periodontal type 1|Ehlers-Danlos syndrome, periodontal type 2

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.