Variant (rsID / SNP)

rs322117

rs322117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A5. Location: chromosome 3, position 130,190,630. The table records no clinical significance for this variant.

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Reference-table entries

COL6A5Not classified

Variant type: missense_variant
Chromosome / position: 3:130190630
HGVS: NM_001278298.2,c.7679G>A,p.Ser2560Asn
Allele change: Missense_S2560N

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.