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Variant (rsID / SNP)

rs819085

COL6A5

rs819085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A5. Location: chromosome 3, position 130,174,334. The table records no clinical significance for this variant.

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Reference-table entries

COL6A5Not classified
Variant type
missense_variant
Chromosome / position
3:130174334
HGVS
NM_001278298.2,c.6614G>A,p.Gly2205Asp
Allele change
Missense_G2205D

Public references

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