This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
C/A/G/T | Ancestral: C | Ambiguity code: N
Location

Chromosome 11:47448832 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073304

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10270

This variant has 27 HGVS names - click the plus to show

Variant allele A
11:g.47448832C>A
ENST00000352508.7:c.133G>T
ENSP00000298853.3:p.Val45Leu
ENST00000298854.6:c.133G>T
ENSP00000298854.2:p.Val45Leu
ENST00000529341.1:c.133G>T
ENSP00000431732.1:p.Val45Leu
ENST00000524487.5:c.133G>T
ENSP00000435551.2:p.Val45Leu

Variant allele T
11:g.47448832C>T
ENST00000352508.7:c.133G>A
ENSP00000298853.3:p.Val45Met
ENST00000298854.6:c.133G>A
ENSP00000298854.2:p.Val45Met
ENST00000529341.1:c.133G>A
ENSP00000431732.1:p.Val45Met
ENST00000524487.5:c.133G>A
ENSP00000435551.2:p.Val45Met

Variant allele G
11:g.47448832C>G
ENST00000352508.7:c.133G>C
ENSP00000298853.3:p.Val45Leu
ENST00000298854.6:c.133G>C
ENSP00000298854.2:p.Val45Leu
ENST00000529341.1:c.133G>C
ENSP00000431732.1:p.Val45Leu
ENST00000524487.5:c.133G>C
ENSP00000435551.2:p.Val45Leu

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays