Variant Results

or

or

Results for "SNRK"

Variant Events: 19

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

SNRK

1-0325-003

chr3:
43365150-43365150

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SNRK

5-0109-003

chr3:
43383248-43383248

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SNRK

1-0119-004

chr3:
43377471-43377471

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SNRK

12362.p1

chr3:
43389632-43389632

C

T

exonic

synonymous SNV

NM_001100594
NM_017719

c.C1881T
c.C1881T

p.A627A
p.A627A

-

Zhou2022 GE

SNRK

iHART2300

chr3:
43389806-43389806

G

A

exonic

Maternal

stopgain

NM_001100594
NM_017719

c.G2055A
c.G2055A

p.W685X
p.W685X

38.0

-

Ruzzo2019 G

SNRK

mAGRE2300

chr3:
43389806-43389806

G

A

exonic

Maternal

stopgain

NM_001100594
NM_017719

c.G2055A
c.G2055A

p.W685X
p.W685X

38.0

-

Cirnigliaro2023 G

SNRK

2-1440-003

chr3:
43344298-43344298

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SNRK

2-1438-003

chr3:
43352700-43352700

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SNRK

2-1619-003

chr3:
43377638-43377638

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SNRK

AU2109301

chr3:
43360498-43360498

C

T

intronic

De novo

-

-

Yuen2017 G

SNRK

AU3761302

chr3:
43344575-43344580

CTTCTT

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SNRK

mAGRE2298

chr3:
43389806-43389806

G

A

exonic

Maternal

stopgain

NM_001100594
NM_017719

c.G2055A
c.G2055A

p.W685X
p.W685X

38.0

-

Cirnigliaro2023 G

SNRK

3-0437-000

chr3:
43347122-43347122

C

T

intronic

De novo

-

-

Yuen2016 G

SNRK

iHART2298

chr3:
43389806-43389806

G

A

exonic

Maternal

stopgain

NM_001100594
NM_017719

c.G2055A
c.G2055A

p.W685X
p.W685X

38.0

-

Ruzzo2019 G

SNRK

1-0182-003

chr3:
43380193-43380193

A

AG

intronic

De novo

-

-

Trost2022 G

SNRK

11411.p1

chr3:
43389739-43389739

A

G

exonic

De novo

nonsynonymous SNV

NM_001100594
NM_017719

c.A1988G
c.A1988G

p.K663R
p.K663R

2.971

-

Iossifov2014 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

SNRK

SP0208139

chr3:
43388960-43388960

G

T

exonic

De novo

nonsynonymous SNV

NM_001100594
NM_017719

c.G1209T
c.G1209T

p.R403S
p.R403S

16.31

-

Trost2022 G

SNRK

1-1165-003

chr3:
43327618-43327618

A

G

upstream

De novo

-

-

Trost2022 G

SNRK

MSSNG00423-004

chr3:
43363327-43363327

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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