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 11:57614450 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM900040 ; PhenCode SERPING1base_D0077:g.17946G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14181

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

11:g.57614450G>A
ENST00000278407.8:c.1372G>A
ENSP00000278407.4:p.Ala458Thr
ENST00000528996.1:c.*312G>A
ENST00000531797.5:c.*397G>A
ENST00000403558.1:c.1501G>A
ENSP00000384420.1:p.Ala501Thr
ENST00000530113.1:n.829G>A
ENST00000619430.1:c.*101G>A
ENST00000378324.6:c.1216G>A
ENSP00000367575.2:p.Ala406Thr
ENST00000340687.10:c.1261G>A
ENSP00000341861.6:p.Ala421Thr
ENST00000378323.8:c.1387G>A
ENSP00000367574.4:p.Ala463Thr
ENST00000531133.5:c.*741G>A
LRG_105:g.21897G>A
LRG_105t1:c.1372G>A
LRG_105p1:p.Ala458Thr

About this variant

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

Variant displays