Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 36 HGVS names - click the plus to show

About this variant

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

Variant displays