Variant Results

or

or

Results for "IQCB1"

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

IQCB1

mAGRE2949

chr3:
121527824-121527826

GAA

G

exonic

Paternal

frameshift deletion

NM_001023570
NM_001023571

c.424_425del
c.424_425del

p.F142fs
p.F142fs

-

Cirnigliaro2023 G

IQCB1

mAGRE1172

chr3:
121500619-121500619

G

A

exonic

Paternal

stopgain

NM_001023571
NM_001023570

c.C982T
c.C1381T

p.R328X
p.R461X

36.0

Cirnigliaro2023 G

IQCB1

4-0007-003

chr3:
121505053-121505053

A

G

intronic

De novo

-

-

Trost2022 G

IQCB1

2-1192-003

chr3:
121545662-121545662

T

A

intronic

De novo

-

-

Trost2022 G

IQCB1

7-0392-005

chr3:
121498880-121498880

A

G

intronic

De novo

-

-

Trost2022 G

IQCB1

MT_166.3

chr3:
121503915-121503917

TTC

T

intronic

De novo

-

-

Trost2022 G

IQCB1

REACH000639

chr3:
121490948-121490948

G

A

intronic

De novo

-

-

Trost2022 G

IQCB1

13621.p1

chr3:
121507230-121507230

A

C

exonic

De novo

nonsynonymous SNV

NM_001023571
NM_001023570

c.T780G
c.T1179G

p.I260M
p.I393M

17.68

-

Ji2016 E
Krumm2015 E

IQCB1

Cukier2014:7658

chr3:
121500697-121500697

G

A

exonic

Unknown

nonsynonymous SNV

NM_001023571
NM_001023570

c.C904T
c.C1303T

p.R302C
p.R435C

14.22

Cukier2014 E

IQCB1

AU2777302

chr3:
121495400-121495400

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IQCB1

MSSNG00361-004

chr3:
121550435-121550435

C

T

intronic

De novo

-

-

Trost2022 G

IQCB1

1-0405-003

chr3:
121503478-121503478

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IQCB1

iHART1172

chr3:
121500619-121500619

G

A

exonic

Paternal

stopgain

NM_001023571
NM_001023570

c.C982T
c.C1381T

p.R328X
p.R461X

36.0

Ruzzo2019 G

IQCB1

iHART2949

chr3:
121527824-121527826

GAA

G

exonic

Paternal

frameshift deletion

NM_001023570
NM_001023571

c.424_425del
c.424_425del

p.F142fs
p.F142fs

-

Ruzzo2019 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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