Variant (rsID / SNP)
rs130071
rs130071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCHCR1. Location: chromosome 6, position 31,116,210. The table records no clinical significance for this variant.
Reference-table entries
CCHCR1Not classified
- Variant type
- synonymous_variant
- Chromosome / position
- 6:31116210
- HGVS
- NM_001394641.1,c.1579C>T,p.Leu527Leu
- Allele change
- Synonymous_L482L
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.