Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 1:201361988 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043595

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5871

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

1:g.201361988C>A
ENST00000491504.5:n.1853G>T
ENST00000367318.9:c.614G>T
ENSP00000356287.5:p.Arg205Leu
ENST00000458432.6:c.428G>T
ENSP00000387874.3:p.Arg143Leu
ENST00000460780.5:n.937G>T
ENST00000367317.8:c.596G>T
ENSP00000356286.5:p.Arg199Leu
ENST00000360372.8:c.515G>T
ENSP00000353535.5:p.Arg172Leu
ENST00000367315.6:c.623G>T
ENSP00000356284.3:p.Arg208Leu
ENST00000367322.5:c.605G>T
ENSP00000356291.1:p.Arg202Leu
ENST00000509001.5:c.614G>T
ENSP00000422031.1:p.Arg205Leu
ENST00000421663.6:c.428G>T
ENSP00000404134.3:p.Arg143Leu
ENST00000476888.5:n.99G>T
ENST00000438742.5:c.596G>T
ENSP00000414036.1:p.Arg199Leu
ENST00000367320.6:c.515G>T
ENSP00000356289.2:p.Arg172Leu
ENST00000515042.5:n.540G>T
ENST00000236918.11:c.644G>T
ENSP00000236918.8:p.Arg215Leu

About this variant

This variant overlaps 23 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays