Variant Results

or

Results for "INTS10"

Variant Events: 13

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

INTS10

11941.p1

chr8:
19701609-19701609

G

A

exonic

De novo

nonsynonymous SNV

NM_018142

c.G1742A

p.R581K

15.7

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

INTS10

11941_p1

chr8:
19701609-19701609

G

A

exonic

De novo

nonsynonymous SNV

NM_018142

c.G1742A

p.R581K

15.7

-

Fu2022 E

INTS10

2-0144-003

chr8:
19688265-19688265

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

INTS10

MT_44.3

chr8:
19675739-19675739

C

T

intronic

De novo

-

Trost2022 G

INTS10

4-0034-003

chr8:
19698059-19698059

A

G

intronic

De novo

-

Trost2022 G

INTS10

AU1223301

chr8:
19788651-19788651

C

G

intergenic

De novo

-

Yuen2017 G

INTS10

AU3852301

chr8:
19749114-19749114

T

C

intergenic

De novo

-

Yuen2017 G

INTS10

AU047904

chr8:
19742023-19742023

C

T

intergenic

De novo

-

Yuen2017 G

INTS10

1-0482-003

chr8:
19687832-19687832

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

INTS10

5-0077-004

chr8:
19676450-19676450

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

INTS10

SP0073024

chr8:
19677189-19677189

T

TTTATTTGAAACTCTTCCTGGTCGGGTCC

splicing

De novo

splicing

-

Fu2022 E

INTS10

SP0068734

chr8:
19700364-19700364

G

T

exonic

De novo

nonsynonymous SNV

NM_018142

c.G1645T

p.D549Y

16.84

-

Fu2022 E
Trost2022 G
Zhou2022 GE

INTS10

5-0100-003

chr8:
19708654-19708654

G

A

intronic

De novo

-

Trost2022 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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