Variant (rsID / SNP)

rs886040974

rs886040974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1S. Location: chromosome 12, position 7,173,895. Clinical significance in the table: Pathogenic.

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Reference-table entries

C1SPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 12:7173895
Cytoband: 12p13.31
HGVS: NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)

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.