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

Chromosome 5:143399752 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980957

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 7 synonyms - click the plus to show

This variant has 51 HGVS names - click the plus to show

Variant allele A
5:g.143399752T>A
ENST00000394464.6:c.1088A>T
ENSP00000377977.2:p.Asn363Ile
ENST00000231509.7:c.1088A>T
ENSP00000231509.3:p.Asn363Ile
ENST00000504572.5:c.1088A>T
ENSP00000422518.1:p.Asn363Ile
ENST00000503201.1:c.1088A>T
ENSP00000427672.1:p.Asn363Ile
ENST00000424646.6:c.1010A>T
ENSP00000405282.2:p.Asn337Ile
ENST00000343796.6:c.1088A>T
ENSP00000343205.2:p.Asn363Ile
ENST00000415690.6:c.1088A>T
ENSP00000387672.2:p.Asn363Ile
ENST00000394466.6:c.1088A>T
ENSP00000377979.2:p.Asn363Ile

Variant allele C
5:g.143399752T>C
ENST00000394464.6:c.1088A>G
ENSP00000377977.2:p.Asn363Ser
ENST00000231509.7:c.1088A>G
ENSP00000231509.3:p.Asn363Ser
ENST00000504572.5:c.1088A>G
ENSP00000422518.1:p.Asn363Ser
ENST00000503201.1:c.1088A>G
ENSP00000427672.1:p.Asn363Ser
ENST00000424646.6:c.1010A>G
ENSP00000405282.2:p.Asn337Ser
ENST00000343796.6:c.1088A>G
ENSP00000343205.2:p.Asn363Ser
ENST00000415690.6:c.1088A>G
ENSP00000387672.2:p.Asn363Ser
ENST00000394466.6:c.1088A>G
ENSP00000377979.2:p.Asn363Ser

Variant allele G
5:g.143399752T>G
ENST00000394464.6:c.1088A>C
ENSP00000377977.2:p.Asn363Thr
ENST00000231509.7:c.1088A>C
ENSP00000231509.3:p.Asn363Thr
ENST00000504572.5:c.1088A>C
ENSP00000422518.1:p.Asn363Thr
ENST00000503201.1:c.1088A>C
ENSP00000427672.1:p.Asn363Thr
ENST00000424646.6:c.1010A>C
ENSP00000405282.2:p.Asn337Thr
ENST00000343796.6:c.1088A>C
ENSP00000343205.2:p.Asn363Thr
ENST00000415690.6:c.1088A>C
ENSP00000387672.2:p.Asn363Thr
ENST00000394466.6:c.1088A>C
ENSP00000377979.2:p.Asn363Thr

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

About this variant

This variant overlaps 39 transcripts, 1 regulatory feature, has 2682 sample genotypes, is associated with 2 phenotypes and is mentioned in 28 citations.

Variant displays