Variant Results

or

Results for "STAM"

Variant Events: 17

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

STAM

5-0033-004

chr10:
17759772-17759772

A

G

downstream

De novo

-

Trost2022 G
Yuen2017 G

STAM

150999

chr10:
17735316-17735316

G

A

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

STAM

1-0435-003

chr10:
17757400-17757400

A

G

UTR3

De novo

-

Yuen2017 G

STAM

AU2988303

chr10:
17695496-17695496

A

G

intronic

De novo

-

Yuen2017 G

STAM

AU3712301

chr10:
17720944-17720944

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

STAM

AU2988302

chr10:
17695496-17695496

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

STAM

SP0107296

chr10:
17730096-17730096

C

G

exonic

De novo

nonsynonymous SNV

NM_003473

c.C368G

p.P123R

25.8

-

Fu2022 E
Trost2022 G
Zhou2022 GE

STAM

MSSNG00101-004

chr10:
17708299-17708299

A

G

intronic

De novo

-

Trost2022 G

STAM

5-0025-004

chr10:
17712776-17712781

TCTCAT

AAAAAAAAAA

intronic

De novo

-

Trost2022 G

STAM

08C73641

chr10:
17726682-17726682

A

T

exonic

De novo

nonsynonymous SNV

NM_003473

c.A134T

p.D45V

27.5

-

Fu2022 E

STAM

14147_p1

chr10:
17738824-17738825

CT

C

exonic

De novo

frameshift deletion

NM_003473

c.780delT

p.P260fs

-

Fu2022 E

STAM

14147.p1

chr10:
17738824-17738825

CT

C

exonic

De novo

frameshift deletion

NM_003473

c.780delT

p.P260fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

STAM

63-449

chr10:
17770022-17770022

T

C

intergenic

De novo

-

Michaelson2012 G

STAM

7-0059-003

chr10:
17751958-17751962

TCTTG

CGCGCCCGGC

intronic

De novo

-

Trost2022 G

STAM

3-0018-000

chr10:
17741841-17741841

A

C

intronic

De novo

-

Trost2022 G

STAM

M19652

chr10:
17730090-17730090

A

T

exonic

Paternal

nonsynonymous SNV

NM_003473

c.A362T

p.N121I

32.0

-

Guo2018 T
Wang2016 T

STAM

3-0709-000

chr10:
17747814-17747814

C

G

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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