Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 3:37020411 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970964 ; PhenCode MMR_c.986A>C (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB MLH1_c.986A>C, 1270

This variant has 23 HGVS names - click the plus to show

3:g.37020411A>C
ENST00000447829.5:c.*97A>C
ENST00000455445.6:c.263A>C
ENSP00000398272.2:p.His88Pro
ENST00000458205.6:c.263A>C
ENSP00000402667.2:p.His88Pro
ENST00000435176.5:c.692A>C
ENSP00000402564.1:p.His231Pro
ENST00000536378.5:c.263A>C
ENSP00000444286.2:p.His88Pro
ENST00000413212.1:c.114-5226A>C
ENST00000441265.5:c.263A>C
ENSP00000398392.1:p.His88Pro
ENST00000231790.6:c.986A>C
ENSP00000231790.2:p.His329Pro
ENST00000456676.6:c.961A>C
ENSP00000416687.2:p.His321Pro
ENST00000539477.5:c.263A>C
ENSP00000443665.1:p.His88Pro
ENST00000458009.5:c.225+2812A>C
LRG_216:g.32062A>C
LRG_216t1:c.986A>C
LRG_216p1:p.His329Pro

About this variant

This variant overlaps 13 transcripts and is associated with 3 phenotypes.

Variant displays