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 11:67365493 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM066009

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_013246.2:c.321C>A, 2010_April_001_028_CLCF1_607672_0001, 15151

This variation has 7 HGVS names - click the plus to show

11:g.67365493G>T
ENST00000622583.3:n.392-22042G>T
ENST00000312438.7:c.321C>A
ENSP00000309338.7:p.Tyr107Ter
ENST00000543494.1:c.16+8031C>A
ENST00000533438.1:c.291C>A
ENSP00000434122.1:p.Tyr97Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variation displays