Variant Results

or

Results for "ALDH18A1"

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

ALDH18A1

AU011604

chr10:
97382480-97382480

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ALDH18A1

Lim2017:35905

chr10:
97371016-97371016

C

G

exonic

De novo

nonsynonymous SNV

NM_001017423
NM_002860

c.G2101C
c.G2107C

p.D701H
p.D703H

14.45

-

Lim2017 E

ALDH18A1

1-0288-004

chr10:
97390959-97390959

A

G

intronic

De novo

-

Trost2022 G

ALDH18A1

mAGRE2342

chr10:
97376373-97376373

T

G

splicing

Paternal

splicing

21.2

2.948E-5

Cirnigliaro2023 G

ALDH18A1

AC04-0030-01

chr10:
97369905-97369905

A

C

intronic

De novo

-

Kosmicki2017 E

ALDH18A1

SP0021852

chr10:
97373735-97373735

C

T

exonic

De novo

nonsynonymous SNV

NM_001017423
NM_002860

c.G1783A
c.G1789A

p.V595I
p.V597I

14.33

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ALDH18A1

AC02-1197-01

chr10:
97380760-97380760

T

G

intronic

De novo

-

3.0E-4

Satterstrom2020 E
Trost2022 G

ALDH18A1

35905

chr10:
97371016-97371016

C

G

exonic

De novo

nonsynonymous SNV

NM_001017423
NM_002860

c.G2101C
c.G2107C

p.D701H
p.D703H

14.45

-

Fu2022 E
Trost2022 G

ALDH18A1

1-0553-003

chr10:
97369650-97369651

TG

CA

intronic

De novo

-

Trost2022 G

ALDH18A1

SP0009665

chr10:
97366640-97366640

C

T

exonic

De novo

nonsynonymous SNV

NM_001017423
NM_002860

c.G2261A
c.G2267A

p.G754E
p.G756E

28.4

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ALDH18A1

2-1455-003

chr10:
97367296-97367296

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ALDH18A1

iHART2342

chr10:
97376373-97376373

T

G

splicing

Paternal

splicing

21.2

2.948E-5

Ruzzo2019 G

ALDH18A1

11931.p1

chr10:
97371016-97371016

C

G

exonic

De novo

nonsynonymous SNV

NM_001017423
NM_002860

c.G2101C
c.G2107C

p.D701H
p.D703H

14.45

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

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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