Variant Results

or

Results for "MISP"

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

MISP

2-0043-003

chr19:
753365-753365

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MISP

SP0016887

chr19:
761662-761662

A

G

exonic

De novo

nonsynonymous SNV

NM_173481

c.A1949G

p.E650G

8.597

-

Feliciano2019 E
Trost2022 G

MISP

AUTPGX_1020

chr19:
755740-755740

T

C

intronic

De novo

-

Trost2022 G

MISP

2-1209-003

chr19:
761447-761447

C

G

intronic

De novo

-

Trost2022 G

MISP

MSSNG00027-004

chr19:
750923-750923

G

C

upstream

De novo

-

Trost2022 G

MISP

MSSNG00441-003

chr19:
757477-757477

G

A

exonic

De novo

synonymous SNV

NM_173481

c.G531A

p.R177R

-

Trost2022 G
Zhou2022 GE

MISP

3-0666-001

chr19:
752205-752205

G

A

intronic

De novo

-

Trost2022 G

MISP

120-06-105567

chr19:
761644-761644

C

T

exonic

De novo

nonsynonymous SNV

NM_173481

c.C1931T

p.S644L

0.042

5.771E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MISP

iHART1668

chr19:
757854-757854

G

A

exonic

De novo

nonsynonymous SNV

NM_173481

c.G908A

p.R303H

26.1

-

Ruzzo2019 G

MISP

11380.p1

chr19:
757877-757878

AG

A

exonic

De novo

frameshift deletion

NM_173481

c.932delG

p.R311fs

-

Ji2016 E
Krumm2015 E

MISP

mAGRE1668

chr19:
757854-757854

G

A

exonic

De novo

nonsynonymous SNV

NM_173481

c.G908A

p.R303H

26.1

-

Cirnigliaro2023 G

MISP

3B329

chr19:
758596-758596

G

A

exonic

De novo

synonymous SNV

NM_173481

c.G1650A

p.E550E

-

1.654E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MISP

3-0140-000

chr19:
771585-771595

CCCTCCTCCTC

CCCTCCTC

intergenic

De novo

-

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
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