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 15:34236719 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM022673 ; PhenCode IPNMDB_646 (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12860

HGVS names

This variant has 54 HGVS names - Hide

Variant allele A
15:g.34236719G>A
ENST00000560611.5:c.3031C>T
ENSP00000454168.1:p.Arg1011Ter
ENST00000558589.5:c.3004C>T
ENSP00000452776.1:p.Arg1002Ter
ENST00000559664.5:c.*240C>T
ENST00000397702.6:c.2854C>T
ENSP00000380814.2:p.Arg952Ter
ENST00000560164.5:c.2467C>T
ENSP00000452705.1:p.Arg823Ter
ENST00000354181.7:c.3031C>T
ENSP00000346112.3:p.Arg1011Ter
ENST00000561080.5:c.*269C>T
ENST00000458406.6:c.2854C>T
ENSP00000387725.2:p.Arg952Ter
ENST00000397707.6:c.2986C>T
ENSP00000380819.2:p.Arg996Ter
ENST00000290209.9:c.2878C>T
ENSP00000290209.5:p.Arg960Ter
ENST00000559523.5:c.*54C>T
ENST00000558667.5:c.3031C>T
ENSP00000453473.1:p.Arg1011Ter
LRG_270:g.106346C>T
LRG_270t1:c.2878C>T
LRG_270p1:p.Arg960Ter
LRG_270t2:c.3031C>T
LRG_270p2:p.Arg1011Ter

Variant allele T
15:g.34236719G>T
ENST00000560611.5:c.3031C>A
ENST00000560611.5:c.3031C>A(p.=)
ENST00000558589.5:c.3004C>A
ENST00000558589.5:c.3004C>A(p.=)
ENST00000559664.5:c.*240C>A
ENST00000397702.6:c.2854C>A
ENST00000397702.6:c.2854C>A(p.=)
ENST00000560164.5:c.2467C>A
ENST00000560164.5:c.2467C>A(p.=)
ENST00000354181.7:c.3031C>A
ENST00000354181.7:c.3031C>A(p.=)
ENST00000561080.5:c.*269C>A
ENST00000458406.6:c.2854C>A
ENST00000458406.6:c.2854C>A(p.=)
ENST00000397707.6:c.2986C>A
ENST00000397707.6:c.2986C>A(p.=)
ENST00000290209.9:c.2878C>A
ENST00000290209.9:c.2878C>A(p.=)
ENST00000559523.5:c.*54C>A
ENST00000558667.5:c.3031C>A
ENST00000558667.5:c.3031C>A(p.=)
LRG_270:g.106346C>A
LRG_270t1:c.2878C>A
LRG_270t1:c.2878C>A(p.=)
LRG_270t2:c.3031C>A
LRG_270t2:c.3031C>A(p.=)

About this variant

This variant overlaps 36 transcripts and is associated with 2 phenotypes.

Variant displays