Variant Results

or

or

Results for "BLK"

Variant Events: 23

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

BLK

11024.p1

chr8:
11403624-11403624

G

T

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

BLK

11845.p1

chr8:
11415531-11415531

T

C

exonic

De novo

nonsynonymous SNV

NM_001715

c.T1013C

p.I338T

17.59

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

BLK

EGAN00001101029

chr8:
11415431-11415431

T

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

BLK

AU3951302

chr8:
11364761-11364761

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BLK

SP0139342

chr8:
11403537-11403537

T

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

BLK

1-0507-003

chr8:
11432307-11432307

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

BLK

SP0143515

chr8:
11418946-11418946

T

C

exonic

De novo

nonsynonymous SNV

NM_001715

c.T1165C

p.Y389H

14.78

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BLK

MSSNG00404-003

chr8:
11406803-11406803

C

T

intronic

De novo

-

-

Trost2022 G

BLK

09C99821

chr8:
11420448-11420448

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

BLK

SP0228933

chr8:
11415453-11415453

C

G

intronic

De novo

-

-

Trost2022 G

BLK

2-1266-003

chr8:
11420448-11420448

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

BLK

5-0003-004

chr8:
11419919-11419919

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BLK

SP0048038

chr8:
11403572-11403572

C

T

exonic

De novo

synonymous SNV

NM_001715

c.C135T

p.N45N

-

-

Trost2022 G

BLK

1-0565-003

chr8:
11429098-11429098

G

A

intergenic

De novo

-

-

Yuen2017 G

BLK

SSC01123

chr8:
11403624-11403624

G

T

intronic

De novo

-

-

Trost2022 G

BLK

AU3951302

chr8:
11369771-11369771

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BLK

mAGRE4156

chr8:
11412994-11412994

G

T

splicing

Paternal

splicing

15.11

-

Cirnigliaro2023 G

BLK

AU3951302

chr8:
11377760-11377760

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BLK

MT_17.3

chr8:
11379709-11379709

T

C

intronic

De novo

-

-

Trost2022 G

BLK

35889

chr8:
11415531-11415531

T

C

exonic

De novo

nonsynonymous SNV

NM_001715

c.T1013C

p.I338T

17.59

Fu2022 E
Trost2022 G

BLK

1-0526-003

chr8:
11410618-11410618

G

GCA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BLK

2-1254-003

chr8:
11410618-11410632

GCACACACACACACA

GCACACACACACA

intronic

De novo

-

-

Yuen2017 G

BLK

AU057405

chr8:
11352759-11352759

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 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
	More