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Results for "LDAH"

Variant Events: 13

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
LDAH     AU070811chr2:
20990072-20990072
TCexonicUnknownnonsynonymous SNVNM_001282723
NM_021925
c.A241G
c.A241G
p.S81G
p.S81G
13.460.0011Chahrour2012 E
LDAH     2-1215-003chr2:
21112249-21112249
TGintergenicDe novo--Yuen2017 G
LDAH     1-0511-003chr2:
20917551-20917554
GTCTGTintronicDe novo--Yuen2017 G
LDAH     1-0564-003chr2:
21108587-21108587
AGintergenicDe novo--Yuen2017 G
LDAH     AU054103chr2:
21023756-21023756
ATupstreamDe novo--Yuen2017 G
LDAH     AU3727303chr2:
21190861-21190861
CTintergenicDe novo--Yuen2017 G
LDAH     7-0001-003chr2:
21073452-21073452
CTintergenicDe novo--Yuen2017 G
LDAH     AU074403chr2:
21185549-21185549
TCintergenicDe novo--Yuen2017 G
LDAH     AU070811chr2:
20974689-20974689
CTexonicUnknownnonsynonymous SNVNM_001282719
NM_001282720
NM_001282724
NM_001282723
NM_021925
c.G223A
c.G205A
c.G223A
c.G349A
c.G349A
p.E75K
p.E69K
p.E75K
p.E117K
p.E117K
28.80.0042Chahrour2012 E
LDAH     AU3806304chr2:
21220271-21220271
TAintergenicDe novo--Yuen2017 G
LDAH     1-0874-003chr2:
20956718-20956718
GAintronicDe novo--Yuen2017 G
LDAH     2-1617-003chr2:
21192535-21192535
CGintergenicDe novo--Yuen2017 G
LDAH     AU4079302chr2:
20921955-20921955
GCintronicDe 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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