Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

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

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 7 transcripts and is associated with 5 phenotypes.

Variant displays