Variant Results

or

Results for "STK36"

Variant Events: 15

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

STK36

SSC10287

chr2:
219562284-219562284

A

G

exonic

De novo

nonsynonymous SNV

NM_001243313
NM_015690

c.A2797G
c.A2860G

p.I933V
p.I954V

7.615

-

Fu2022 E
Lim2017 E
Trost2022 G

STK36

12335.p1

chr2:
219537583-219537583

G

A

exonic

De novo

nonsynonymous SNV

NM_001243313
NM_015690

c.G31A
c.G31A

p.G11R
p.G11R

36.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

STK36

13902.p1

chr2:
219562284-219562284

A

G

exonic

De novo

nonsynonymous SNV

NM_001243313
NM_015690

c.A2797G
c.A2860G

p.I933V
p.I954V

7.615

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

STK36

iHART1991

chr2:
219563323-219563323

A

G

splicing

Paternal

splicing

14.72

-

Ruzzo2019 G

STK36

iHART1581

chr2:
219561937-219561937

G

T

splicing

Paternal

splicing

17.03

-

Ruzzo2019 G

STK36

mAGRE1991

chr2:
219563323-219563323

A

G

splicing

Paternal

splicing

14.72

-

Cirnigliaro2023 G

STK36

SP0133544

chr2:
219566653-219566653

C

G

exonic

De novo

nonsynonymous SNV

NM_001243313
NM_015690

c.C3806G
c.C3869G

p.P1269R
p.P1290R

5.434

-

Fu2022 E
Trost2022 G
Zhou2022 GE

STK36

3-0476-000

chr2:
219545457-219545457

T

G

intronic

De novo

-

Trost2022 G

STK36

SP0158292

chr2:
219559251-219559251

G

A

exonic

De novo

nonsynonymous SNV

NM_001243313
NM_015690

c.G2404A
c.G2404A

p.A802T
p.A802T

24.6

-

Trost2022 G

STK36

SP0204989

chr2:
219544396-219544396

C

G

exonic

De novo

nonsynonymous SNV

NM_001243313
NM_015690

c.C892G
c.C892G

p.Q298E
p.Q298E

9.979

-

Trost2022 G

STK36

mAGRE1581

chr2:
219561937-219561937

G

T

splicing

Paternal

splicing

17.03

-

Cirnigliaro2023 G

STK36

AU3124302

chr2:
219561937-219561937

G

T

splicing

Maternal

splicing

17.03

-

Cirnigliaro2023 G

STK36

1-0606-003

chr2:
219547310-219547336

CTTTATTTATTTATTTATTTATTTATT

CTTTATTTATTTATTTATTTATT

intronic

De novo

-

Yuen2017 G

STK36

1272_14mr

chr2:
219563458-219563458

C

T

exonic

De novo

nonsynonymous SNV

NM_001243313
NM_015690

c.C3128T
c.C3191T

p.S1043L
p.S1064L

5.087

1.647E-5

Fu2022 E

STK36

AU2333302

chr2:
219546500-219546500

G

A

intronic

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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