Variant Results

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Results for "ASB2"

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

ASB2

AU2715301

chr14:
94404185-94404185

C

T

exonic

nonsynonymous SNV

NM_016150
NM_001202429

c.G1486A
c.G1630A

p.V496I
p.V544I

1.784

Zhou2022 GE

ASB2

4-0082-004

chr14:
94435732-94435732

G

A

intronic

De novo

-

-

Trost2022 G

ASB2

mAGRE2627

chr14:
94405855-94405855

G

GGC

exonic

Maternal

frameshift insertion

NM_016150
NM_001202429

c.1071_1072insGC
c.1215_1216insGC

p.L358fs
p.L406fs

-

Cirnigliaro2023 G

ASB2

08C76119

chr14:
94404185-94404185

C

T

exonic

De novo

nonsynonymous SNV

NM_016150
NM_001202429

c.G1486A
c.G1630A

p.V496I
p.V544I

1.784

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ASB2

4-0046-004

chr14:
94441539-94441539

C

T

intronic

De novo

-

-

Trost2022 G

ASB2

7-0461-004

chr14:
94422096-94422096

G

T

intronic

De novo

-

-

Trost2022 G

ASB2

1-0186-004

chr14:
94416499-94416499

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ASB2

5-0003-004

chr14:
94459349-94459352

ACGT

A

intergenic

De novo

-

-

Yuen2017 G

ASB2

11437.p1

chr14:
94423291-94423291

G

T

UTR5

De novo

-

-

Krumm2015 E

ASB2

iHART2627

chr14:
94405855-94405855

G

GGC

exonic

Maternal

frameshift insertion

NM_016150
NM_001202429

c.1071_1072insGC
c.1215_1216insGC

p.L358fs
p.L406fs

-

Ruzzo2019 G

ASB2

AU3725302

chr14:
94407233-94407233

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ASB2

SP0064643

chr14:
94405524-94405524

G

A

exonic

De novo

nonsynonymous SNV

NM_016150
NM_001202429

c.C1403T
c.C1547T

p.P468L
p.P516L

22.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ASB2

mAGRE5472

chr14:
94417346-94417346

G

C

exonic

Paternal

stopgain

NM_016150
NM_001202429

c.C735G
c.C879G

p.Y245X
p.Y293X

22.0

-

Cirnigliaro2023 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
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