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Variant (rsID / SNP)

rs111567071

COL3A1

rs111567071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,868,851. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL3A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:189868851
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
Allele change
Synonymous_P935P

Associated conditions / phenotypes

Ehlers-Danlos syndrome, type 4|Cardiovascular phenotype|Connective tissue disorder|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome

Public references

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