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

Chromosome 1:201364336 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013440 ; ESP TMP_ESP_1_201333464_201333464 (G/-) ; ClinVar rs730881115 (G/-)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 75 HGVS names - click the plus to show

Variant allele A
1:g.201364336G>A
ENST00000367318.9:c.421C>T
ENSP00000356287.5:p.Arg141Trp
ENST00000491504.5:n.1660C>T
ENST00000503459.1:n.290C>T
ENST00000458432.6:c.244C>T
ENSP00000387874.3:p.Arg82Trp
ENST00000367317.8:c.406C>T
ENSP00000356286.5:p.Arg136Trp
ENST00000367315.6:c.427C>T
ENSP00000356284.3:p.Arg143Trp
ENST00000360372.8:c.331C>T
ENSP00000353535.5:p.Arg111Trp
ENST00000421663.6:c.244C>T
ENSP00000404134.3:p.Arg82Trp
ENST00000367322.5:c.421C>T
ENSP00000356291.1:p.Arg141Trp
ENST00000509001.5:c.421C>T
ENSP00000422031.1:p.Arg141Trp
ENST00000438742.5:c.406C>T
ENSP00000414036.1:p.Arg136Trp
ENST00000455702.5:c.451C>T
ENSP00000402238.1:p.Arg151Trp
ENST00000367320.6:c.331C>T
ENSP00000356289.2:p.Arg111Trp
ENST00000515042.5:n.347C>T
ENST00000236918.11:c.451C>T
ENSP00000236918.8:p.Arg151Trp
ENST00000466570.5:n.677C>T

Variant allele T
1:g.201364336G>T
ENST00000367318.9:c.421C>A
ENST00000491504.5:n.1660C>A
ENST00000503459.1:n.290C>A
ENST00000458432.6:c.244C>A
ENST00000367317.8:c.406C>A
ENST00000367315.6:c.427C>A
ENST00000360372.8:c.331C>A
ENST00000421663.6:c.244C>A
ENST00000367322.5:c.421C>A
ENST00000509001.5:c.421C>A
ENST00000438742.5:c.406C>A
ENST00000455702.5:c.451C>A
ENST00000367320.6:c.331C>A
ENST00000515042.5:n.347C>A
ENST00000236918.11:c.451C>A
ENST00000466570.5:n.677C>A

Variant allele C
1:g.201364336G>C
ENST00000367318.9:c.421C>G
ENSP00000356287.5:p.Arg141Gly
ENST00000491504.5:n.1660C>G
ENST00000503459.1:n.290C>G
ENST00000458432.6:c.244C>G
ENSP00000387874.3:p.Arg82Gly
ENST00000367317.8:c.406C>G
ENSP00000356286.5:p.Arg136Gly
ENST00000367315.6:c.427C>G
ENSP00000356284.3:p.Arg143Gly
ENST00000360372.8:c.331C>G
ENSP00000353535.5:p.Arg111Gly
ENST00000421663.6:c.244C>G
ENSP00000404134.3:p.Arg82Gly
ENST00000367322.5:c.421C>G
ENSP00000356291.1:p.Arg141Gly
ENST00000509001.5:c.421C>G
ENSP00000422031.1:p.Arg141Gly
ENST00000438742.5:c.406C>G
ENSP00000414036.1:p.Arg136Gly
ENST00000455702.5:c.451C>G
ENSP00000402238.1:p.Arg151Gly
ENST00000367320.6:c.331C>G
ENSP00000356289.2:p.Arg111Gly
ENST00000515042.5:n.347C>G
ENST00000236918.11:c.451C>G
ENSP00000236918.8:p.Arg151Gly
ENST00000466570.5:n.677C>G

About this variant

This variant overlaps 75 transcripts, has 2504 sample genotypes and is associated with 7 phenotypes.

Variant displays