Variant Results

or

or

Results for "INTS7"

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

INTS7

AU1742302

chr1:
212139030-212139030

G

A

intronic

De novo

-

-

Yuen2017 G

INTS7

AU3859301

chr1:
212204566-212204566

T

C

intronic

De novo

-

-

Yuen2017 G

INTS7

2-1408-004

chr1:
212148046-212148046

A

G

intronic

De novo

-

-

Yuen2017 G

INTS7

SSC04824

chr1:
212190300-212190300

C

G

exonic

De novo

nonsynonymous SNV

NM_001199809
NM_001199811
NM_001199812
NM_015434

c.G290C
c.G437C
c.G437C
c.G437C

p.S97T
p.S146T
p.S146T
p.S146T

30.0

-

Lim2017 E

INTS7

12494.p1

chr1:
212190300-212190300

C

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001199809
NM_001199811
NM_001199812
NM_015434

c.G290C
c.G437C
c.G437C
c.G437C

p.S97T
p.S146T
p.S146T
p.S146T

30.0

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

INTS7

2-1336-004

chr1:
212117205-212117205

A

G

intronic

De novo

-

-

Yuen2017 G

INTS7

09C85947

chr1:
212179999-212179999

C

T

exonic

De novo

stopgain

NM_001199809
NM_001199811
NM_001199812
NM_015434

c.G714A
c.G861A
c.G861A
c.G861A

p.W238X
p.W287X
p.W287X
p.W287X

36.0

-

Satterstrom2020 E

INTS7

A11

chr1:
212114442-212114442

T

C

UTR3

De novo

-

-

Wu2018 G

INTS7

iHART2227

chr1:
212154449-212154449

G

A

exonic

Paternal

stopgain

NM_001199809
NM_001199811
NM_001199812
NM_015434

c.C1069T
c.C1216T
c.C1216T
c.C1216T

p.Q357X
p.Q406X
p.Q406X
p.Q406X

39.0

-

Ruzzo2019 G

INTS7

AU4473301

chr1:
212127377-212127377

A

G

intronic

De novo

-

-

Yuen2017 G

INTS7

iHART1454

chr1:
212115222-212115222

G

A

exonic

Maternal

stopgain

NM_001199809
NM_001199811
NM_001199812
NM_015434

c.C2686T
c.C2791T
c.C2773T
c.C2833T

p.Q896X
p.Q931X
p.Q925X
p.Q945X

40.0

-

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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