Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 11:57614439 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920132 ; PhenCode SERPING1base_D0077:g.17935T>A (T/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14189

HGVS names

This variant has 19 HGVS names - Hide

11:g.57614439T>A
ENST00000278407.8:c.1361T>A
ENSP00000278407.4:p.Val454Glu
ENST00000528996.1:c.*301T>A
ENST00000531797.5:c.*386T>A
ENST00000403558.1:c.1490T>A
ENSP00000384420.1:p.Val497Glu
ENST00000619430.1:c.*90T>A
ENST00000530113.1:n.818T>A
ENST00000378324.6:c.1205T>A
ENSP00000367575.2:p.Val402Glu
ENST00000340687.10:c.1250T>A
ENSP00000341861.6:p.Val417Glu
ENST00000531133.5:c.*730T>A
ENST00000378323.8:c.1376T>A
ENSP00000367574.4:p.Val459Glu
LRG_105:g.21886T>A
LRG_105t1:c.1361T>A
LRG_105p1:p.Val454Glu

About this variant

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

Variant displays