Variant Results

or

Results for "SNX19"

Variant Events: 29

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

SNX19

1-0219-003

chr11:
130970489-130970489

T

C

intergenic

De novo

-

Yuen2017 G

SNX19

1-0193-003

chr11:
130992148-130992148

C

G

intergenic

De novo

-

Yuen2017 G

SNX19

AU065304

chr11:
130769651-130769665

TAGTTACAACAAGTT

TAGTT

intronic

De novo

-

Yuen2017 G

SNX19

2-0242-003

chr11:
131231313-131231313

T

C

intergenic

De novo

-

Yuen2017 G

SNX19

2-1441-003

chr11:
130817922-130817940

TGAGAGAGAGAGAGAGAGA

TGAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

SNX19

AU2433302

chr11:
130770603-130770603

C

T

intronic

De novo

-

Yuen2017 G

SNX19

AU1952305

chr11:
131122775-131122775

A

T

intergenic

De novo

-

Yuen2017 G

SNX19

AU4145301

chr11:
130867219-130867219

T

C

intergenic

De novo

-

Yuen2017 G

SNX19

13884.p1

chr11:
130775881-130775881

C

T

exonic

De novo

nonsynonymous SNV

NM_001301089
NM_014758

c.G550A
c.G2410A

p.V184M
p.V804M

11.59

1.0E-4

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

SNX19

1-0436-003

chr11:
130817922-130817940

TGAGAGAGAGAGAGAGAGA

TGAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

SNX19

AU2137304

chr11:
131202552-131202552

C

T

intergenic

De novo

-

Yuen2017 G

SNX19

AU007503

chr11:
130753887-130753887

G

A

intronic

De novo

-

Yuen2017 G

SNX19

1-0651-003

chr11:
131056229-131056229

C

G

intergenic

De novo

-

Yuen2017 G

SNX19

Lim2017:35985

chr11:
130775881-130775881

C

T

exonic

De novo

nonsynonymous SNV

NM_001301089
NM_014758

c.G550A
c.G2410A

p.V184M
p.V804M

11.59

1.0E-4

Lim2017 E

SNX19

AU4015303

chr11:
130954988-130954988

G

C

intergenic

De novo

-

Yuen2017 G

SNX19

74-0075

chr11:
130753887-130753887

G

A

intronic

De novo

-

Michaelson2012 G

SNX19

2-1437-003

chr11:
130971059-130971059

C

G

intergenic

De novo

-

Yuen2017 G

SNX19

AU3076302

chr11:
130854874-130854874

G

A

intergenic

De novo

-

Yuen2017 G

SNX19

5-0055-003

chr11:
130968175-130968175

T

C

intergenic

De novo

-

Yuen2017 G

SNX19

2-1093-005

chr11:
130837570-130837571

AC

A

intergenic

De novo

-

Yuen2017 G

SNX19

2-1337-003

chr11:
130819719-130819719

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SNX19

1-0498-003

chr11:
131034607-131034625

CATTATTATTATTATTATT

CATTATTATTATTATT

intergenic

De novo

-

Yuen2017 G

SNX19

AU3858302

chr11:
131023758-131023758

G

A

intergenic

De novo

-

Yuen2017 G

SNX19

2-1408-003

chr11:
130862966-130862966

C

T

intergenic

De novo

-

Yuen2017 G

SNX19

3-0436-000

chr11:
130968979-130968979

T

G

intergenic

De novo

-

Yuen2017 G

SNX19

2-1715-004

chr11:
131231303-131231303

A

G

intergenic

De novo

-

Yuen2017 G

SNX19

AU049304

chr11:
131052324-131052324

C

T

intergenic

De novo

-

Yuen2017 G

SNX19

AU4145303

chr11:
130744763-130744768

GTGTTG

GTGTTGTTG

downstream

De novo

-

Yuen2017 G

SNX19

AU049304

chr11:
131115842-131115842

A

G

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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