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
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

About this variant

This variant overlaps 29 transcripts, has 2504 individual genotypes and is associated with 4 phenotypes.

Variation displays