Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 1:197427559 (forward strand) | View in location tab


with COSMIC COSM32648 (C/T) ; HGMD-PUBLIC CM992150 ; PhenCode RISN_CRB1:c.2234C>T (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 13 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12

Variation displays