This variation has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM003663, CM970334

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB FINDIS1049, 14570

This variation has 141 HGVS names - click the plus to show

Variant allele A
16:g.28482500C>A
ENST00000563874.4:n.2317G>T
ENST00000395653.7:c.583G>T
ENSP00000379014.4:p.Glu195Ter
ENST00000628023.1:c.*179G>T
ENST00000357857.12:c.721G>T
ENSP00000350523.9:p.Glu241Ter
ENST00000564574.4:n.931G>T
ENST00000561689.4:n.724G>T
ENST00000567963.4:c.883G>T
ENSP00000455387.1:p.Glu295Ter
ENST00000569430.4:c.883G>T
ENSP00000454229.1:p.Glu295Ter
ENST00000568224.3:c.649G>T
ENSP00000454253.1:p.Glu217Ter
ENST00000565316.4:c.855+108G>T
ENST00000568472.4:n.363G>T
ENST00000359984.10:c.577G>T
ENSP00000353073.8:p.Glu193Ter
ENST00000333496.12:c.811G>T
ENSP00000329171.9:p.Glu271Ter
ENST00000360019.5:c.883G>T
ENSP00000353116.2:p.Glu295Ter
ENST00000565354.4:n.102G>T
ENST00000355477.8:c.*120G>T
ENST00000566057.4:c.*179G>T
ENST00000631023.1:c.883G>T
ENSP00000486616.1:p.Glu295Ter
ENST00000568452.4:n.883G>T
ENST00000565140.4:c.*120G>T
ENST00000623866.1:c.649G>T
ENSP00000485589.1:p.Glu217Ter
ENST00000569030.4:c.553G>T
ENSP00000454680.1:p.Glu185Ter
ENST00000568558.4:c.424G>T
ENSP00000455603.1:p.Glu142Ter
ENST00000568422.4:c.*120G>T
ENST00000567495.4:c.*120G>T
ENST00000357806.10:c.586G>T
ENSP00000350457.7:p.Glu196Ter
ENST00000568076.4:n.666G>T
ENST00000568497.4: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
ENST00000563874.4:n.2317G>A
ENST00000395653.7:c.583G>A
ENSP00000379014.4:p.Glu195Lys
ENST00000628023.1:c.*179G>A
ENST00000357857.12:c.721G>A
ENSP00000350523.9:p.Glu241Lys
ENST00000564574.4:n.931G>A
ENST00000561689.4:n.724G>A
ENST00000567963.4:c.883G>A
ENSP00000455387.1:p.Glu295Lys
ENST00000569430.4:c.883G>A
ENSP00000454229.1:p.Glu295Lys
ENST00000568224.3:c.649G>A
ENSP00000454253.1:p.Glu217Lys
ENST00000565316.4:c.855+108G>A
ENST00000568472.4:n.363G>A
ENST00000359984.10:c.577G>A
ENSP00000353073.8:p.Glu193Lys
ENST00000333496.12:c.811G>A
ENSP00000329171.9:p.Glu271Lys
ENST00000360019.5:c.883G>A
ENSP00000353116.2:p.Glu295Lys
ENST00000565354.4:n.102G>A
ENST00000355477.8:c.*120G>A
ENST00000566057.4:c.*179G>A
ENST00000631023.1:c.883G>A
ENSP00000486616.1:p.Glu295Lys
ENST00000568452.4:n.883G>A
ENST00000565140.4:c.*120G>A
ENST00000623866.1:c.649G>A
ENSP00000485589.1:p.Glu217Lys
ENST00000569030.4:c.553G>A
ENSP00000454680.1:p.Glu185Lys
ENST00000568558.4:c.424G>A
ENSP00000455603.1:p.Glu142Lys
ENST00000568422.4:c.*120G>A
ENST00000567495.4:c.*120G>A
ENST00000357806.10:c.586G>A
ENSP00000350457.7:p.Glu196Lys
ENST00000568076.4:n.666G>A
ENST00000568497.4: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

Variant allele G
16:g.28482500C>G
ENST00000563874.4:n.2317G>C
ENST00000395653.7:c.583G>C
ENSP00000379014.4:p.Glu195Gln
ENST00000628023.1:c.*179G>C
ENST00000357857.12:c.721G>C
ENSP00000350523.9:p.Glu241Gln
ENST00000564574.4:n.931G>C
ENST00000561689.4:n.724G>C
ENST00000567963.4:c.883G>C
ENSP00000455387.1:p.Glu295Gln
ENST00000569430.4:c.883G>C
ENSP00000454229.1:p.Glu295Gln
ENST00000568224.3:c.649G>C
ENSP00000454253.1:p.Glu217Gln
ENST00000565316.4:c.855+108G>C
ENST00000568472.4:n.363G>C
ENST00000359984.10:c.577G>C
ENSP00000353073.8:p.Glu193Gln
ENST00000333496.12:c.811G>C
ENSP00000329171.9:p.Glu271Gln
ENST00000360019.5:c.883G>C
ENSP00000353116.2:p.Glu295Gln
ENST00000565354.4:n.102G>C
ENST00000355477.8:c.*120G>C
ENST00000566057.4:c.*179G>C
ENST00000631023.1:c.883G>C
ENSP00000486616.1:p.Glu295Gln
ENST00000568452.4:n.883G>C
ENST00000565140.4:c.*120G>C
ENST00000623866.1:c.649G>C
ENSP00000485589.1:p.Glu217Gln
ENST00000569030.4:c.553G>C
ENSP00000454680.1:p.Glu185Gln
ENST00000568558.4:c.424G>C
ENSP00000455603.1:p.Glu142Gln
ENST00000568422.4:c.*120G>C
ENST00000567495.4:c.*120G>C
ENST00000357806.10:c.586G>C
ENSP00000350457.7:p.Glu196Gln
ENST00000568076.4:n.666G>C
ENST00000568497.4:c.*179G>C
LRG_689:g.14803G>C
LRG_689t2:c.883G>C
LRG_689p2:p.Glu295Gln
LRG_689t1:c.883G>C
LRG_689p1:p.Glu295Gln

About this variant

This variant overlaps 111 transcripts, has 2504 individual genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variation displays