Original source

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

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

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

Co-located variants

HGMD-PUBLIC CM980957 ; dbSNP rs386601909 (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 34 HGVS names - Hide

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
ENST00000503201.1:c.1088A>T
ENSP00000427672.1:p.Asn363Ile
ENST00000504572.5:c.1088A>T
ENSP00000422518.1: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
ENST00000503201.1:c.1088A>G
ENSP00000427672.1:p.Asn363Ser
ENST00000504572.5:c.1088A>G
ENSP00000422518.1: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

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 26 transcripts, 1 regulatory feature, has 2806 sample genotypes, is associated with 2 phenotypes and is mentioned in 28 citations.

Variant displays