Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 1:201359636 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM043596

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5872

HGVS names

This variant has 52 HGVS names - Hide

Variant allele A
1:g.201359636C>A
ENST00000367318.9:c.808G>T
ENSP00000356287.5:p.Asp270Tyr
ENST00000491504.5:n.2047G>T
ENST00000458432.6:c.622G>T
ENSP00000387874.3:p.Asp208Tyr
ENST00000460780.5:n.1957G>T
ENST00000367317.8:c.790G>T
ENSP00000356286.5:p.Asp264Tyr
ENST00000360372.8:c.709G>T
ENSP00000353535.5:p.Asp237Tyr
ENST00000367315.6:c.817G>T
ENSP00000356284.3:p.Asp273Tyr
ENST00000509001.5:c.808G>T
ENSP00000422031.1:p.Asp270Tyr
ENST00000367322.5:c.799G>T
ENSP00000356291.1:p.Asp267Tyr
ENST00000421663.6:c.622G>T
ENSP00000404134.3:p.Asp208Tyr
ENST00000438742.5:c.790G>T
ENSP00000414036.1:p.Asp264Tyr
ENST00000476888.5:n.255G>T
ENST00000367320.6:c.709G>T
ENSP00000356289.2:p.Asp237Tyr
ENST00000236918.11:c.838G>T
ENSP00000236918.8:p.Asp280Tyr

Variant allele T
1:g.201359636C>T
ENST00000367318.9:c.808G>A
ENSP00000356287.5:p.Asp270Asn
ENST00000491504.5:n.2047G>A
ENST00000458432.6:c.622G>A
ENSP00000387874.3:p.Asp208Asn
ENST00000460780.5:n.1957G>A
ENST00000367317.8:c.790G>A
ENSP00000356286.5:p.Asp264Asn
ENST00000360372.8:c.709G>A
ENSP00000353535.5:p.Asp237Asn
ENST00000367315.6:c.817G>A
ENSP00000356284.3:p.Asp273Asn
ENST00000509001.5:c.808G>A
ENSP00000422031.1:p.Asp270Asn
ENST00000367322.5:c.799G>A
ENSP00000356291.1:p.Asp267Asn
ENST00000421663.6:c.622G>A
ENSP00000404134.3:p.Asp208Asn
ENST00000438742.5:c.790G>A
ENSP00000414036.1:p.Asp264Asn
ENST00000476888.5:n.255G>A
ENST00000367320.6:c.709G>A
ENSP00000356289.2:p.Asp237Asn
ENST00000236918.11:c.838G>A
ENSP00000236918.8:p.Asp280Asn

About this variant

This variant overlaps 38 transcripts and is associated with 2 phenotypes.

Variant displays