Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs139531404

C1R

rs139531404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1R. Location: chromosome 12, position 7,242,740. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

C1RConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:7242740
Cytoband
12p13.31
HGVS
NM_001733.7(C1R):c.336G>C (p.Met112Ile)
Allele change
Missense_M112I

Associated conditions / phenotypes

Ehlers-Danlos syndrome, periodontal type 1|Vascular dementia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.