Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 1:201365638 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951217 ; PhenCode FHC0549 (A/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5863

This variation has 33 HGVS names - click the plus to show

1:g.201365638A>T
ENST00000503459.1:n.105T>A
ENST00000367318.8:c.236T>A
ENSP00000356287.5:p.Ile79Asn
ENST00000491504.4:n.1475T>A
ENST00000458432.5:c.59T>A
ENSP00000387874.3:p.Ile20Asn
ENST00000367317.7:c.221T>A
ENSP00000356286.5:p.Ile74Asn
ENST00000422165.4:c.251T>A
ENSP00000395163.1:p.Ile84Asn
ENST00000360372.7:c.263T>A
ENSP00000353535.5:p.Ile88Asn
ENST00000367315.5:c.242T>A
ENSP00000356284.3:p.Ile81Asn
ENST00000367322.4:c.236T>A
ENSP00000356291.1:p.Ile79Asn
ENST00000421663.5:c.59T>A
ENSP00000404134.3:p.Ile20Asn
ENST00000509001.4:c.236T>A
ENSP00000422031.1:p.Ile79Asn
ENST00000438742.4:c.221T>A
ENSP00000414036.1:p.Ile74Asn
ENST00000455702.4:c.266T>A
ENSP00000402238.1:p.Ile89Asn
ENST00000367320.5:c.263T>A
ENSP00000356289.2:p.Ile88Asn
ENST00000412633.2:c.233T>A
ENSP00000408731.1:p.Ile78Asn
ENST00000515042.4:n.162T>A
ENST00000236918.10:c.266T>A
ENSP00000236918.8:p.Ile89Asn
ENST00000466570.4:n.492T>A

About this variant

This variant overlaps 25 transcripts and is associated with 3 phenotypes.

Variation displays