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
A/C/G/T | Ancestral: A | Ambiguity code: N | MAF: 0.12 (G)
Location

Chromosome 17:39723335 (forward strand) | View in location tab

Co-located

with COSMIC COSM4000121 (A/G) ; HGMD-PUBLIC CM004332

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 8 synonyms - click the plus to show

This variant has 81 HGVS names - click the plus to show

Variant allele T
17:g.39723335A>T
ENST00000583038.5:n.3097A>T
ENST00000580074.1:c.69A>T
ENSP00000463002.1:p.Ile24Phe
ENST00000584450.5:c.1963A>T
ENSP00000463714.1:p.Ile655Phe
ENST00000582818.5:c.281A>T
ENSP00000464252.1:p.Ile95Phe
ENST00000578630.1:n.572A>T
ENST00000541774.5:c.1918A>T
ENSP00000446466.1:p.Ile640Phe
ENST00000445658.6:c.1135A>T
ENSP00000404047.2:p.Ile379Phe
ENST00000269571.9:c.1963A>T
ENSP00000269571.4:p.Ile655Phe
ENST00000406381.6:c.1873A>T
ENSP00000385185.2:p.Ile625Phe
ENST00000578373.5:c.*1753A>T
ENST00000584601.5:c.1873A>T
ENSP00000462438.1:p.Ile625Phe
LRG_724:g.40196A>T
LRG_724t4:c.1918A>T
LRG_724p4:p.Ile640Phe
LRG_724t1:c.1873A>T
LRG_724p1:p.Ile625Phe
LRG_724t2:c.1963A>T
LRG_724p2:p.Ile655Phe

Variant allele C
17:g.39723335A>C
ENST00000583038.5:n.3097A>C
ENST00000580074.1:c.69A>C
ENSP00000463002.1:p.Ile24Leu
ENST00000584450.5:c.1963A>C
ENSP00000463714.1:p.Ile655Leu
ENST00000582818.5:c.281A>C
ENSP00000464252.1:p.Ile95Leu
ENST00000578630.1:n.572A>C
ENST00000541774.5:c.1918A>C
ENSP00000446466.1:p.Ile640Leu
ENST00000445658.6:c.1135A>C
ENSP00000404047.2:p.Ile379Leu
ENST00000269571.9:c.1963A>C
ENSP00000269571.4:p.Ile655Leu
ENST00000406381.6:c.1873A>C
ENSP00000385185.2:p.Ile625Leu
ENST00000578373.5:c.*1753A>C
ENST00000584601.5:c.1873A>C
ENSP00000462438.1:p.Ile625Leu
LRG_724:g.40196A>C
LRG_724t4:c.1918A>C
LRG_724p4:p.Ile640Leu
LRG_724t1:c.1873A>C
LRG_724p1:p.Ile625Leu
LRG_724t2:c.1963A>C
LRG_724p2:p.Ile655Leu

Variant allele G
17:g.39723335A>G
ENST00000583038.5:n.3097A>G
ENST00000580074.1:c.69A>G
ENSP00000463002.1:p.Ile24Val
ENST00000584450.5:c.1963A>G
ENSP00000463714.1:p.Ile655Val
ENST00000582818.5:c.281A>G
ENSP00000464252.1:p.Ile95Val
ENST00000578630.1:n.572A>G
ENST00000541774.5:c.1918A>G
ENSP00000446466.1:p.Ile640Val
ENST00000445658.6:c.1135A>G
ENSP00000404047.2:p.Ile379Val
ENST00000269571.9:c.1963A>G
ENSP00000269571.4:p.Ile655Val
ENST00000406381.6:c.1873A>G
ENSP00000385185.2:p.Ile625Val
ENST00000578373.5:c.*1753A>G
ENST00000584601.5:c.1873A>G
ENSP00000462438.1:p.Ile625Val
LRG_724:g.40196A>G
LRG_724t4:c.1918A>G
LRG_724p4:p.Ile640Val
LRG_724t1:c.1873A>G
LRG_724p1:p.Ile625Val
LRG_724t2:c.1963A>G
LRG_724p2:p.Ile655Val

This variant has assays on 9 chips - click the plus to show

About this variant

This variant overlaps 48 transcripts, has 3980 sample genotypes, is associated with 3 phenotypes and is mentioned in 22 citations.

Variant displays