Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 3:37048955 (forward strand) | View in location tab

Co-located

with COSMIC COSM1422604 (G/A) ; HGMD-PUBLIC CM960974 ; PhenCode MMR_c.2041G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1284, MLH1_complex_21

This variant has 19 HGVS names - click the plus to show

3:g.37048955G>A
ENST00000455445.6:c.1318G>A
ENSP00000398272.2:p.Ala440Thr
ENST00000413740.1:c.291-1531G>A
ENST00000231790.6:c.2041G>A
ENSP00000231790.2:p.Ala681Thr
ENST00000456676.6:c.1871+1272G>A
ENST00000539477.5:c.1318G>A
ENSP00000443665.1:p.Ala440Thr
ENST00000458205.6:c.1318G>A
ENSP00000402667.2:p.Ala440Thr
ENST00000435176.5:c.1747G>A
ENSP00000402564.1:p.Ala583Thr
ENST00000536378.5:c.1318G>A
ENSP00000444286.2:p.Ala440Thr
ENST00000450420.5:c.182-1531G>A
LRG_216:g.60606G>A
LRG_216t1:c.2041G>A
LRG_216p1:p.Ala681Thr

About this variant

This variant overlaps 18 transcripts and is associated with 3 phenotypes.

Variant displays