Variant Results

or

or

Results for "SNTG2"

Variant Events: 29

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

SNTG2

1-0455-003

chr2:
1194838-1194841

ATCC

A

intronic

De novo

-

-

Yuen2017 G

SNTG2

1-0384-003

chr2:
1193608-1193608

G

A

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-0320-003

chr2:
975718-975718

A

G

intronic

De novo

-

-

Yuen2017 G

SNTG2

AU3051303

chr2:
1150678-1150678

A

G

intronic

De novo

-

-

Yuen2017 G

SNTG2

AU4483301

chr2:
976222-976226

CTTTT

CTTT

intronic

De novo

-

-

Yuen2017 G

SNTG2

AU4483301

chr2:
976252-976276

TACAATGATTTCTACAGAGCTCACA

TACA

intronic

De novo

-

-

Yuen2017 G

SNTG2

AU3811301

chr2:
1111963-1111963

T

C

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-0182-003

chr2:
1146929-1146929

G

GGGTGT

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-1579-003

chr2:
1391831-1391831

C

T

intergenic

De novo

-

-

Yuen2017 G

SNTG2

7-0148-003

chr2:
1391742-1391742

G

A

intergenic

De novo

-

-

Yuen2017 G

SNTG2

2-1237-003

chr2:
1217079-1217084

GTCTCT

GTCTCTCTCT

intronic

De novo

-

-

Yuen2017 G

SNTG2

5-0131-003

chr2:
1283750-1283750

C

T

intronic

De novo

-

-

Yuen2017 G

SNTG2

AU3398301

chr2:
1040748-1040748

A

G

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-1283-003

chr2:
1200641-1200641

A

G

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-1283-003

chr2:
1146929-1146929

G

GGGTGT

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-1352-003

chr2:
1385618-1385618

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SNTG2

iHART2536

chr2:
1271332-1271332

C

T

exonic

Paternal

stopgain

NM_018968

c.C1273T

p.Q425X

31.0

-

Ruzzo2019 G

SNTG2

1-0509-003

chr2:
963071-963071

A

G

intronic

De novo

-

-

Yuen2017 G

SNTG2

SJD_34

chr2:
1271174-1271174

T

C

exonic

Maternal

nonsynonymous SNV

NM_018968

c.T1115C

p.L372S

13.32

-

Toma2013 E

SNTG2

1-0483-003

chr2:
1041359-1041359

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SNTG2

2-1255-003

chr2:
1218253-1218256

CTGT

CT

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-1317-003

chr2:
1218253-1218256

CTGT

CT

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-0219-004

chr2:
1324772-1324772

A

G

intronic

De novo

-

-

Yuen2017 G

SNTG2

1-0652-004

chr2:
1139393-1139393

T

TAAAAAAAAAA

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-1089-004

chr2:
1341372-1341372

A

G

intronic

De novo

-

-

Yuen2017 G

SNTG2

AU3053301

chr2:
978297-978297

C

T

intronic

De novo

-

-

Yuen2017 G

SNTG2

2-1283-004

chr2:
1200641-1200641

A

G

intronic

De novo

-

-

Yuen2017 G

SNTG2

1-0495-003

chr2:
1342234-1342234

A

T

intronic

De novo

-

-

Yuen2017 G

SNTG2

1-0368-004

chr2:
1255574-1255574

A

ACG

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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