Variant (rsID / SNP)

rs9883988

rs9883988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A5. Location: chromosome 3, position 130,162,395. The table records no clinical significance for this variant.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL6A5Not classified

Variant type: missense_variant
Chromosome / position: 3:130162395
HGVS: NM_001278298.2,c.6563A>G,p.Gln2188Arg
Allele change: Missense_Q2188R

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.