Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 3:37048562 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022817 ; PhenCode MMR_c.1942C>T (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 1282, MLH1_c.1942C>T

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

3:g.37048562C>T
ENST00000455445.5:c.1219C>T
ENSP00000398272.2:p.Pro407Ser
ENST00000435176.4:c.1648C>T
ENSP00000402564.1:p.Pro550Ser
ENST00000458205.5:c.1219C>T
ENSP00000402667.2:p.Pro407Ser
ENST00000413740.1:c.291-1924C>T
ENST00000536378.4:c.1219C>T
ENSP00000444286.2:p.Pro407Ser
ENST00000231790.5:c.1942C>T
ENSP00000231790.2:p.Pro648Ser
ENST00000456676.5:c.1871+879C>T
ENST00000539477.4:c.1219C>T
ENSP00000443665.1:p.Pro407Ser
ENST00000450420.4:c.182-1924C>T
LRG_216:g.60213C>T
LRG_216t1:c.1942C>T
LRG_216p1:p.Pro648Ser

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variation displays