Variant (rsID / SNP)
rs12488457
rs12488457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A5. Location: chromosome 3, position 130,116,696. The table records no clinical significance for this variant.
Reference-table entries
COL6A5Not classified
- Variant type
- missense_variant
- Chromosome / position
- 3:130116696
- HGVS
- NM_001278298.2,c.3838A>C,p.Thr1280Pro
- Allele change
- Missense_T1280P
Associated conditions / phenotypes
Psoriatic Arthritis|Pustulosis of Palm and Sole|Arthritis|Psoriasis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.