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Results for "ALAS2"

Variant Events: 6

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
ALAS2     AU009904chrX:
55091069-55091079
GTTTTTTTTTTGTTTTTTTTTintergenicDe novo--Yuen2017 G
ALAS2     1-0367-003chrX:
55042386-55042393
GTCTCTCTGTCTCTintronicDe novo--Yuen2017 G
ALAS2     09C92779chrX:
55046923-55046923
CTexonicDe novononsynonymous SNVNM_001037967
NM_000032
NM_001037968
c.G542A
c.G653A
c.G614A
p.R181H
p.R218H
p.R205H
17.637.0E-4Satterstrom2020 E
ALAS2     SJD_49chrX:
55039960-55039960
GAexonicMaternalnonsynonymous SNVNM_001037967
NM_000032
NM_001037968
c.C1448T
c.C1559T
c.C1520T
p.P483L
p.P520L
p.P507L
23.30.0014Toma2013 E
ALAS2     2-1168-003chrX:
55042386-55042393
GTCTCTCTGTCTCTCTCTintronicDe novo--Yuen2017 G
ALAS2     AU3368302chrX:
55042386-55042393
GTCTCTCTGTCTCTCTCTintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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