Variant (rsID / SNP)

rs3130453

rs3130453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCHCR1, TCF19. Location: chromosome 6, position 31,124,849. The table records no clinical significance for this variant.

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Reference-table entries

CCHCR1Not classified

Variant type: stop_gained
Chromosome / position: 6:31124849
HGVS: NM_001394641.1,c.261G>A,p.Trp87*
Allele change: Nonsense_W78X

Associated conditions / phenotypes

Pustulosis of Palm and Sole|Psoriasis

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.