Variant (rsID / SNP)

rs766961124

rs766961124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,703,220. 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: 9:137703220
Cytoband: 9q34.3
HGVS: NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=)
Allele change: Synonymous_I1188I

Associated conditions / phenotypes

Ehlers-Danlos syndrome type 7A

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.