Variant Results

or

Results for "ADAT1"

Variant Events: 11

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

ADAT1

1-0025-004

chr16:
75646419-75646419

G

A

exonic

De novo

synonymous SNV

NM_012091

c.C765T

p.D255D

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

ADAT1

SSC10874

chr16:
75654641-75654641

C

G

exonic

De novo

synonymous SNV

NM_012091

c.G57C

p.L19L

-

Fu2022 E
Lim2017 E
Trost2022 G

ADAT1

1-0161-003

chr16:
75655151-75655154

TCCA

GGCC

intronic

De novo

-

Trost2022 G

ADAT1

AU4467302

chr16:
75648841-75648841

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADAT1

SP0234210

chr16:
75632972-75632972

C

T

UTR3

De novo

-

Trost2022 G

ADAT1

SP0213215

chr16:
75634139-75634139

G

A

exonic

De novo

nonsynonymous SNV

NM_012091

c.C1484T

p.P495L

27.9

1.648E-5

Trost2022 G

ADAT1

MSSNG00357-003

chr16:
75632910-75632910

C

T

UTR3

De novo

-

Trost2022 G

ADAT1

SP0038640

chr16:
75632972-75632972

C

T

UTR3

De novo

-

Trost2022 G

ADAT1

14176.p1

chr16:
75654641-75654641

C

G

exonic

De novo

synonymous SNV

NM_012091

c.G57C

p.L19L

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

ADAT1

mAGRE5225

chr16:
75654696-75654696

A

ATGGTCTGAGCTGGTAT

exonic

Paternal

frameshift insertion

NM_012091

c.1_2insATACCAGCTCAGACCA

p.M1fs

-

Cirnigliaro2023 G

ADAT1

mAGRE5224

chr16:
75654696-75654696

A

ATGGTCTGAGCTGGTAT

exonic

Paternal

frameshift insertion

NM_012091

c.1_2insATACCAGCTCAGACCA

p.M1fs

-

Cirnigliaro2023 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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