Variant Results

or

Results for "SSH1"

Variant Events: 16

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

SSH1

2-1429-004

chr12:
109230952-109230952

G

A

intronic

De novo

-

Yuen2017 G

SSH1

mAGRE5741

chr12:
109205076-109205076

G

A

exonic

Paternal

stopgain

NM_001161331
NM_001161330
NM_018984

c.C463T
c.C430T
c.C430T

p.R155X
p.R144X
p.R144X

35.0

-

Cirnigliaro2023 G

SSH1

1-0339-003

chr12:
109212542-109212542

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SSH1

AU245A

chr12:
109182009-109182009

C

T

exonic

De novo

nonsynonymous SNV

NM_018984

c.G2905A

p.V969I

14.94

3.0E-4

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SSH1

PN400264

chr12:
109200103-109200103

C

G

exonic

Unknown

nonsynonymous SNV

NM_001161331
NM_001161330
NM_018984

c.G832C
c.G799C
c.G799C

p.D278H
p.D267H
p.D267H

32.0

-

Leblond2019 E

SSH1

REACH000718

chr12:
109250771-109250773

CCA

C

intronic

De novo

-

Trost2022 G

SSH1

SSC04797

chr12:
109221201-109221201

G

A

UTR5

De novo

-

Trost2022 G

SSH1

AU2427301

chr12:
109241392-109241392

C

A

intronic

De novo

-

Yuen2017 G

SSH1

3-0612-000

chr12:
109240829-109240829

T

G

intronic

De novo

-

Trost2022 G

SSH1

AU2310301

chr12:
109219846-109219846

T

C

intronic

De novo

-

Trost2022 G

SSH1

MSSNG00340-003

chr12:
109220214-109220214

C

T

intronic

De novo

-

Trost2022 G

SSH1

2-0057-003

chr12:
109194471-109194471

T

C

intronic

De novo

-

Trost2022 G

SSH1

AU4215302

chr12:
109250207-109250207

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SSH1

21183-33343

chr12:
109186418-109186418

G

A

exonic

Inherited

stopgain

NM_001161331
NM_001161330
NM_018984

c.C1570T
c.C1537T
c.C1537T

p.R524X
p.R513X
p.R513X

19.64

8.466E-6

Callaghan2019 G

SSH1

12693.p1

chr12:
109221201-109221201

G

A

UTR5

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SSH1

08C75326

chr12:
109221036-109221036

T

G

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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