Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

Chromosome 11:34966740 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM042447

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 12 HGVS names - click the plus to show

Variant allele T
11:g.34966740C>T
ENST00000448838.7:c.697C>T
ENSP00000389404.2:p.Gln233Ter
ENST00000227868.8:c.742C>T
ENSP00000227868.4:p.Gln248Ter
ENST00000430469.6:c.343-17830C>T

Variant allele G
11:g.34966740C>G
ENST00000448838.7:c.697C>G
ENSP00000389404.2:p.Gln233Glu
ENST00000227868.8:c.742C>G
ENSP00000227868.4:p.Gln248Glu
ENST00000430469.6:c.343-17830C>G

About this variant

This variant overlaps 6 transcripts, has 1 sample genotype and is associated with 2 phenotypes.

Variant displays