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Variant (rsID / SNP)

rs376248130

COL5A1

rs376248130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,697,033. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL5A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:137697033
Cytoband
9q34.3
HGVS
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)
Allele change
Synonymous_E1077E

Associated conditions / phenotypes

Ehlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome

Public references

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