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 11:57614472 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950179

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14191

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

11:g.57614472C>T
ENST00000278407.8:c.1394C>T
ENSP00000278407.4:p.Ala465Val
ENST00000528996.1:c.*334C>T
ENST00000531797.5:c.*419C>T
ENST00000403558.1:c.1523C>T
ENSP00000384420.1:p.Ala508Val
ENST00000619430.1:c.*123C>T
ENST00000530113.1:n.851C>T
ENST00000378324.6:c.1238C>T
ENSP00000367575.2:p.Ala413Val
ENST00000340687.10:c.1283C>T
ENSP00000341861.6:p.Ala428Val
ENST00000531133.5:c.*763C>T
ENST00000378323.8:c.1409C>T
ENSP00000367574.4:p.Ala470Val
LRG_105:g.21919C>T
LRG_105t1:c.1394C>T
LRG_105p1:p.Ala465Val

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays