Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 1:201359245 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951222

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5866

This variation has 25 HGVS names - click the plus to show

1:g.201359245G>A
ENST00000491504.4:n.2071C>T
ENST00000367318.8:c.832C>T
ENSP00000356287.5:p.Arg278Cys
ENST00000458432.5:c.646C>T
ENSP00000387874.3:p.Arg216Cys
ENST00000460780.4:n.1981C>T
ENST00000367317.7:c.814C>T
ENSP00000356286.5:p.Arg272Cys
ENST00000360372.7:c.733C>T
ENSP00000353535.5:p.Arg245Cys
ENST00000367315.5:c.841C>T
ENSP00000356284.3:p.Arg281Cys
ENST00000509001.4:c.832C>T
ENSP00000422031.1:p.Arg278Cys
ENST00000367322.4:c.823C>T
ENSP00000356291.1:p.Arg275Cys
ENST00000421663.5:c.646C>T
ENSP00000404134.3:p.Arg216Cys
ENST00000476888.4:n.279C>T
ENST00000438742.4:c.814C>T
ENST00000367320.5:c.733C>T
ENSP00000356289.2:p.Arg245Cys
ENST00000236918.10:c.862C>T
ENSP00000236918.8:p.Arg288Cys

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 19 transcripts and is associated with 3 phenotypes.

Variation displays