Variant Results

or

or

Results for "SSH2"

Variant Events: 21

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

SSH2

2-1300-003

chr17:
27970909-27970909

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SSH2

1-0196-005

chr17:
28170265-28170265

A

G

intronic

De novo

-

-

Yuen2017 G

SSH2

1-0196-005

chr17:
27997101-27997101

T

A

intronic

De novo

-

-

Yuen2017 G

SSH2

1-0570-003

chr17:
28110430-28110430

C

G

intronic

De novo

-

-

Yuen2017 G

SSH2

2-1142-003

chr17:
28069340-28069340

T

C

intronic

De novo

-

-

Yuen2017 G

SSH2

2-0219-004

chr17:
28221205-28221207

GTA

G

intronic

De novo

-

-

Yuen2017 G

SSH2

2-0307-003

chr17:
27984782-27984782

G

A

intronic

De novo

-

-

Yuen2017 G

SSH2

2-1235-004

chr17:
28146447-28146447

A

G

intronic

De novo

-

-

Yuen2017 G

SSH2

2-1605-003

chr17:
27963346-27963346

A

G

exonic

De novo

synonymous SNV

NM_033389
NM_001282129

c.T1821C
c.T1902C

p.N607N
p.N634N

-

-

Yuen2017 G

SSH2

AU1795302

chr17:
28131053-28131053

C

T

intronic

De novo

-

-

Yuen2017 G

SSH2

72-1397

chr17:
27963290-27963290

G

T

exonic

Inherited

nonsynonymous SNV

NM_033389
NM_001282129

c.C1877A
c.C1958A

p.S626Y
p.S653Y

21.8

-

Patowary2019 E

SSH2

AU4067301

chr17:
28223430-28223430

T

C

intronic

De novo

-

-

Yuen2017 G

SSH2

09C87503

chr17:
27958409-27958409

C

T

exonic

De novo

nonsynonymous SNV

NM_033389
NM_001282129

c.G3722A
c.G3803A

p.R1241Q
p.R1268Q

12.33

Fu2022 E
Satterstrom2020 E

SSH2

SP0122263

chr17:
27958966-27958966

T

C

exonic

De novo

synonymous SNV

NM_033389
NM_001282129

c.A3165G
c.A3246G

p.T1055T
p.T1082T

-

-

Fu2022 E

SSH2

12303.p1

chr17:
27982695-27982698

GAGA

G

intronic

De novo

-

-

Dong2014 E
Kosmicki2017 E
Satterstrom2020 E

SSH2

SP0069073

chr17:
28004714-28004714

C

T

exonic

De novo

synonymous SNV

NM_001282131
NM_001282130
NM_033389
NM_001282129

c.G465A
c.G444A
c.G444A
c.G525A

p.T155T
p.T148T
p.T148T
p.T175T

-

Fu2022 E

SSH2

2-0214-003

chr17:
27979449-27979449

C

T

intronic

De novo

-

-

Yuen2017 G

SSH2

AU4007301

chr17:
28156737-28156737

A

G

intronic

De novo

-

-

Yuen2017 G

SSH2

3-0661-000

chr17:
27986399-27986399

T

C

intronic

De novo

-

-

Yuen2017 G

SSH2

3-0140-000

chr17:
28237594-28237594

T

C

intronic

De novo

-

-

Yuen2017 G

SSH2

AU4013301

chr17:
28092403-28092403

C

T

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
	More