Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

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

Co-located variant

HGMD-PUBLIC CM066009

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

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

HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
11:g.67365493G>A
ENST00000622583.4:n.392-22042G>A
ENST00000312438.7:c.321C>T
ENST00000312438.7:c.321C>T(p.=)
ENST00000543494.1:c.16+8031C>T
ENST00000533438.1:c.291C>T
ENST00000533438.1:c.291C>T(p.=)

Variant allele T
11:g.67365493G>T
ENST00000622583.4: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 10 transcripts and is associated with 2 phenotypes.

Variant displays