Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 11:47235308 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031666

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9559

This variant has 16 HGVS names - click the plus to show

11:g.47235308G>T
ENST00000617847.4:c.*561G>T
ENST00000256996.8:c.919G>T
ENSP00000256996.3:p.Asp307Tyr
ENST00000616278.4:c.*124G>T
ENST00000614394.1:n.309G>T
ENST00000378603.7:c.727G>T
ENSP00000367866.3:p.Asp243Tyr
ENST00000620515.1:n.85G>T
ENST00000612309.4:n.2368G>T
ENST00000378601.7:c.*6G>T
ENST00000378600.7:c.457-2529G>T
ENST00000617022.4:n.1554-2529G>T
LRG_467:g.25367G>T
LRG_467t1:c.919G>T
LRG_467p1:p.Asp307Tyr

About this variant

This variant overlaps 23 transcripts and is associated with 2 phenotypes.

Variant displays