Variant Results

or

Results for "ING1"

Variant Events: 12

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

ING1

SSC11416

chr13:
111371596-111371596

G

A

exonic

nonsynonymous SNV

NM_001267728
NM_005537
NM_198217
NM_198219

c.G106A
c.G586A
c.G25A
c.G157A

p.E36K
p.E196K
p.E9K
p.E53K

15.9

-

Antaki2022 GE

ING1

071-08-109328

chr13:
111371813-111371830

ACAGCGGCAAGGCTGGCG

A

exonic

De novo

frameshift deletion

NM_001267728
NM_005537
NM_198217
NM_198218
NM_198219

c.324_340del
c.804_820del
c.243_259del
c.168_184del
c.375_391del

p.N108fs
p.N268fs
p.N81fs
p.N56fs
p.N125fs

-

Satterstrom2020 E

ING1

SP0109884

chr13:
111365806-111365806

C

T

UTR5

De novo

-

Fu2022 E

ING1

2-0298-003

chr13:
111384855-111384860

GTTATC

G

intergenic

De novo

-

Yuen2017 G

ING1

SP0037525

chr13:
111367810-111367810

C

T

exonic

De novo

nonsynonymous SNV

NM_001267728
NM_005537

c.C20T
c.C20T

p.P7L
p.P7L

14.34

-

Fu2022 E

ING1

AU2437302

chr13:
111412873-111412873

G

A

intergenic

De novo

-

Yuen2017 G

ING1

1-0294-003

chr13:
111439866-111439866

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ING1

3-0436-000

chr13:
111430822-111430822

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ING1

SP0032873

chr13:
111366360-111366360

C

T

UTR5

De novo

-

Fu2022 E

ING1

AU1542303

chr13:
111456175-111456175

T

C

intergenic

De novo

-

Yuen2017 G

ING1

2-1107-003

chr13:
111368231-111368231

C

T

exonic

Maternal

synonymous SNV

NM_005537

c.C441T

p.G147G

-

3.0E-4

Yuen2016 G

ING1

1-0346-003

chr13:
111372208-111372208

C

T

exonic

De novo

nonsynonymous SNV

NM_001267728
NM_005537
NM_198217
NM_198218
NM_198219

c.C718T
c.C1198T
c.C637T
c.C562T
c.C769T

p.R240W
p.R400W
p.R213W
p.R188W
p.R257W

15.62

-

Yuen2015 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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