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 1:201365244 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951219, CM031383, CM068093

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5867

This variant has 27 HGVS names - click the plus to show

1:g.201365244A>T
ENST00000367318.9:c.328T>A
ENSP00000356287.5:p.Phe110Ile
ENST00000491504.5:n.1567T>A
ENST00000503459.1:n.197T>A
ENST00000458432.6:c.151T>A
ENSP00000387874.3:p.Phe51Ile
ENST00000367317.8:c.313T>A
ENSP00000356286.5:p.Phe105Ile
ENST00000367315.6:c.334T>A
ENSP00000356284.3:p.Phe112Ile
ENST00000360372.8:c.291+366T>A
ENST00000367322.5:c.328T>A
ENSP00000356291.1:p.Phe110Ile
ENST00000509001.5:c.328T>A
ENSP00000422031.1:p.Phe110Ile
ENST00000421663.6:c.151T>A
ENSP00000404134.3:p.Phe51Ile
ENST00000438742.5:c.313T>A
ENSP00000414036.1:p.Phe105Ile
ENST00000455702.5:c.358T>A
ENSP00000402238.1:p.Phe120Ile
ENST00000367320.6:c.291+366T>A
ENST00000515042.5:n.254T>A
ENST00000236918.11:c.358T>A
ENSP00000236918.8:p.Phe120Ile
ENST00000466570.5:n.584T>A

About this variant

This variant overlaps 25 transcripts and is associated with 2 phenotypes.

Variant displays