Variant (rsID / SNP)
rs130066
rs130066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCHCR1. Location: chromosome 6, position 31,122,315. The table records no clinical significance for this variant.
Reference-table entries
CCHCR1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 6:31122315
- HGVS
- NM_001394641.1,c.786C>G,p.Ser262Arg
- Allele change
- Missense_S217R
Associated conditions / phenotypes
Pustulosis of Palm and Sole|Psoriasis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.