Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 15:34257713 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061195

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12865

HGVS names

This variant has 32 HGVS names - Hide

15:g.34257713G>A
ENST00000560611.5:c.619C>T
ENSP00000454168.1:p.Arg207Cys
ENST00000558589.5:c.592C>T
ENSP00000452776.1:p.Arg198Cys
ENST00000559664.5:c.619C>T
ENSP00000453702.1:p.Arg207Cys
ENST00000397702.6:c.442C>T
ENSP00000380814.2:p.Arg148Cys
ENST00000559867.1:n.268G>A
ENST00000560164.5:c.126+1100C>T
ENST00000354181.7:c.619C>T
ENSP00000346112.3:p.Arg207Cys
ENST00000458406.6:c.442C>T
ENSP00000387725.2:p.Arg148Cys
ENST00000561080.5:c.619C>T
ENSP00000454069.1:p.Arg207Cys
ENST00000397707.6:c.574C>T
ENSP00000380819.2:p.Arg192Cys
ENST00000290209.9:c.466C>T
ENSP00000290209.5:p.Arg156Cys
ENST00000560332.1:c.202C>T
ENSP00000454037.1:p.Arg68Cys
ENST00000559523.5:c.442C>T
ENSP00000452904.1:p.Arg148Cys
ENST00000558667.5:c.619C>T
ENSP00000453473.1:p.Arg207Cys
LRG_270:g.85352C>T
LRG_270t1:c.466C>T
LRG_270p1:p.Arg156Cys
LRG_270t2:c.619C>T
LRG_270p2:p.Arg207Cys

About this variant

This variant overlaps 19 transcripts and is associated with 2 phenotypes.

Variant displays