Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H|MAF: < 0.01 (A)
Location

Chromosome 2:47783292 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM003460 ; PhenCode MMR_c.59C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 36 HGVS names - Show

About this variant

This variant overlaps 28 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 5 phenotypes.

Variant displays