Variant Results

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Results for "ABHD12B"

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

ABHD12B

AU015903

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_181814
NM_001206673
NM_181814
NM_001206673

c.528_534del
c.759_765del
c.532_538del
c.763_769del

p.S176fs
p.S253fs
p.N178fs
p.N255fs

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ABHD12B

1-0186-005

chr14:
51340545-51340545

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ABHD12B

Shi2013:2

chr14:
51344693-51344693

T

C

exonic

Inherited

nonsynonymous SNV

NM_001206673

c.T128C

p.M43T

0.017

-

Shi2013 G

ABHD12B

mAGRE1448

chr14:
51347189-51347189

C

CG

exonic

Paternal

frameshift insertion

NM_181814
NM_001206673

c.125dupG
c.356dupG

p.R42fs
p.R119fs

-

-

Cirnigliaro2023 G

ABHD12B

Shi2013:1

chr14:
51344693-51344693

T

C

exonic

Inherited

nonsynonymous SNV

NM_001206673

c.T128C

p.M43T

0.017

-

Shi2013 G

ABHD12B

1-0493-003

chr14:
51341812-51341812

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ABHD12B

SP0170285

chr14:
51338978-51338978

T

C

exonic

De novo

nonsynonymous SNV

NM_001206673
NM_181814

c.T86C
c.T86C

p.M29T
p.M29T

19.79

-

Trost2022 G

ABHD12B

mAGRE2795

chr14:
51368582-51368582

T

TA

exonic

Maternal

frameshift insertion

NM_181814
NM_001206673

c.586dupA
c.817dupA

p.L195fs
p.L272fs

-

Cirnigliaro2023 G

ABHD12B

iHART1448

chr14:
51347189-51347189

C

CG

exonic

Paternal

frameshift insertion

NM_181814
NM_001206673

c.125dupG
c.356dupG

p.R42fs
p.R119fs

-

-

Ruzzo2019 G

ABHD12B

mAGRE1388

chr14:
51368582-51368582

T

TA

exonic

Paternal

frameshift insertion

NM_181814
NM_001206673

c.586dupA
c.817dupA

p.L195fs
p.L272fs

-

Cirnigliaro2023 G

ABHD12B

mAGRE1385

chr14:
51368582-51368582

T

TA

exonic

Paternal

frameshift insertion

NM_181814
NM_001206673

c.586dupA
c.817dupA

p.L195fs
p.L272fs

-

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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