Variant Results

or

Results for "LDAH"

Variant Events: 14

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

AU070811

chr2:
20990072-20990072

T

C

exonic

Unknown

nonsynonymous SNV

NM_001282723
NM_021925

c.A241G
c.A241G

p.S81G
p.S81G

13.46

0.0011

Chahrour2012 E

LDAH

2-1215-003

chr2:
21112249-21112249

T

G

intergenic

De novo

-

Yuen2017 G

LDAH

1-0511-003

chr2:
20917551-20917554

GTCT

GT

intronic

De novo

-

Yuen2017 G

LDAH

MSSNG00382-003

chr2:
20983494-20983494

C

A

intronic

De novo

-

Trost2022 G

LDAH

1-0564-003

chr2:
21108587-21108587

A

G

intergenic

De novo

-

Yuen2017 G

LDAH

AU054103

chr2:
21023756-21023756

A

T

upstream

De novo

-

Trost2022 G
Yuen2017 G

LDAH

AU3727303

chr2:
21190861-21190861

C

T

intergenic

De novo

-

Yuen2017 G

LDAH

7-0001-003

chr2:
21073452-21073452

C

T

intergenic

De novo

-

Yuen2017 G

LDAH

AU074403

chr2:
21185549-21185549

T

C

intergenic

De novo

-

Yuen2017 G

LDAH

AU070811

chr2:
20974689-20974689

C

T

exonic

Unknown

nonsynonymous SNV

NM_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

28.8

0.0042

Chahrour2012 E

LDAH

AU3806304

chr2:
21220271-21220271

T

A

intergenic

De novo

-

Yuen2017 G

LDAH

1-0874-003

chr2:
20956718-20956718

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LDAH

2-1617-003

chr2:
21192535-21192535

C

G

intergenic

De novo

-

Yuen2017 G

LDAH

AU4079302

chr2:
20921955-20921955

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

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 notes	View
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