Original source

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

Alleles
T/A/C|Ancestral: T|Ambiguity code: H
Location

Chromosome 11:124875150 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041430

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15851

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
11:g.124875150T>A
ENST00000538940.5:c.2047T>A
ENSP00000441797.1:p.Ser683Thr
ENST00000397801.5:c.2113T>A
ENSP00000380903.1:p.Ser705Thr

Variant allele C
11:g.124875150T>C
ENST00000538940.5:c.2047T>C
ENSP00000441797.1:p.Ser683Pro
ENST00000397801.5:c.2113T>C
ENSP00000380903.1:p.Ser705Pro

About this variant

This variant overlaps 42 transcripts and is associated with 2 phenotypes.

Variant displays