Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variants

COSMIC COSM4186587, COSM32648 ; HGMD-PUBLIC CM992150 ; PhenCode RISN_CRB1:c.2234C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 13 HGVS names - 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