Original source

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

Alleles
G/A/C | Ancestral: G | Ambiguity code: V
Location

Chromosome 11:124875145 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041429

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15850

This variant has 10 HGVS names - click the plus to show

Variant allele A
11:g.124875145G>A
ENST00000538940.5:c.2042G>A
ENSP00000441797.1:p.Arg681Gln
ENST00000397801.5:c.2108G>A
ENSP00000380903.1:p.Arg703Gln

Variant allele C
11:g.124875145G>C
ENST00000538940.5:c.2042G>C
ENSP00000441797.1:p.Arg681Pro
ENST00000397801.5:c.2108G>C
ENSP00000380903.1:p.Arg703Pro

About this variant

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

Variant displays