Original source

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

Alleles
C/A/T|Ambiguity code: H|MAF: < 0.01 (T)
Location

Chromosome 16:28482500 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM970334, CM003663

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 14570, FINDIS1049

HGVS names

This variant has 90 HGVS names - Hide

Variant allele A
16:g.28482500C>A
ENST00000395653.8:c.583G>T
ENSP00000379014.4:p.Glu195Ter
ENST00000563874.5:n.2317G>T
ENST00000628023.2:c.*179G>T
ENST00000357857.13:c.721G>T
ENSP00000350523.9:p.Glu241Ter
ENST00000564574.5:n.931G>T
ENST00000561689.5:n.724G>T
ENST00000567963.5:c.883G>T
ENSP00000455387.1:p.Glu295Ter
ENST00000569430.5:c.883G>T
ENSP00000454229.1:p.Glu295Ter
ENST00000568224.4:c.649G>T
ENSP00000454253.1:p.Glu217Ter
ENST00000565316.5:c.855+108G>T
ENST00000568472.5:n.363G>T
ENST00000359984.11:c.577G>T
ENSP00000353073.8:p.Glu193Ter
ENST00000360019.6:c.883G>T
ENSP00000353116.2:p.Glu295Ter
ENST00000333496.13:c.811G>T
ENSP00000329171.9:p.Glu271Ter
ENST00000565354.5:n.102G>T
ENST00000355477.9:c.*120G>T
ENST00000566057.5:c.*179G>T
ENST00000631023.2:c.883G>T
ENSP00000486616.1:p.Glu295Ter
ENST00000568452.5:n.883G>T
ENST00000565140.5:c.*120G>T
ENST00000569030.5:c.553G>T
ENSP00000454680.1:p.Glu185Ter
ENST00000568422.5:c.*120G>T
ENST00000568558.5:c.424G>T
ENSP00000455603.1:p.Glu142Ter
ENST00000567495.5:c.*120G>T
ENST00000357806.11:c.586G>T
ENSP00000350457.7:p.Glu196Ter
ENST00000568076.5:n.666G>T
ENST00000568497.5:c.*179G>T
LRG_689:g.14803G>T
LRG_689t2:c.883G>T
LRG_689p2:p.Glu295Ter
LRG_689t1:c.883G>T
LRG_689p1:p.Glu295Ter

Variant allele T
16:g.28482500C>T
ENST00000395653.8:c.583G>A
ENSP00000379014.4:p.Glu195Lys
ENST00000563874.5:n.2317G>A
ENST00000628023.2:c.*179G>A
ENST00000357857.13:c.721G>A
ENSP00000350523.9:p.Glu241Lys
ENST00000564574.5:n.931G>A
ENST00000561689.5:n.724G>A
ENST00000567963.5:c.883G>A
ENSP00000455387.1:p.Glu295Lys
ENST00000569430.5:c.883G>A
ENSP00000454229.1:p.Glu295Lys
ENST00000568224.4:c.649G>A
ENSP00000454253.1:p.Glu217Lys
ENST00000565316.5:c.855+108G>A
ENST00000568472.5:n.363G>A
ENST00000359984.11:c.577G>A
ENSP00000353073.8:p.Glu193Lys
ENST00000360019.6:c.883G>A
ENSP00000353116.2:p.Glu295Lys
ENST00000333496.13:c.811G>A
ENSP00000329171.9:p.Glu271Lys
ENST00000565354.5:n.102G>A
ENST00000355477.9:c.*120G>A
ENST00000566057.5:c.*179G>A
ENST00000631023.2:c.883G>A
ENSP00000486616.1:p.Glu295Lys
ENST00000568452.5:n.883G>A
ENST00000565140.5:c.*120G>A
ENST00000569030.5:c.553G>A
ENSP00000454680.1:p.Glu185Lys
ENST00000568422.5:c.*120G>A
ENST00000568558.5:c.424G>A
ENSP00000455603.1:p.Glu142Lys
ENST00000567495.5:c.*120G>A
ENST00000357806.11:c.586G>A
ENSP00000350457.7:p.Glu196Lys
ENST00000568076.5:n.666G>A
ENST00000568497.5:c.*179G>A
LRG_689:g.14803G>A
LRG_689t2:c.883G>A
LRG_689p2:p.Glu295Lys
LRG_689t1:c.883G>A
LRG_689p1:p.Glu295Lys

About this variant

This variant overlaps 72 transcripts, has 2504 sample genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays