Variant Results

or

Results for "GNPTG"

Variant Events: 12

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

GNPTG

2-1731-003

chr16:
1402957-1402957

A

G

intronic

De novo

-

Yuen2017 G

GNPTG

AU4015302

chr16:
1407761-1407761

G

C

intronic

De novo

-

Yuen2017 G

GNPTG

AU046708

chr16:
1412509-1412509

C

G

exonic

De novo

nonsynonymous SNV

NM_032520

c.C583G

p.L195V

20.1

-

Yuen2017 G

GNPTG

37418

chr16:
1412838-1412838

C

T

exonic

De novo

nonsynonymous SNV

NM_032520

c.C754T

p.L252F

16.03

-

Fu2022 E

GNPTG

SSC07799

chr16:
1402258-1402258

G

T

exonic

De novo

nonsynonymous SNV

NM_032520

c.G129T

p.L43F

11.92

-

Fu2022 E

GNPTG

12252.p1

Complex Event; expand row to view variants

De novo

-

Iossifov2012 E
Iossifov2014 E
Iossifov2014 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E

GNPTG

14575.p1

chr16:
1412838-1412838

C

T

exonic

De novo

nonsynonymous SNV

NM_032520

c.C754T

p.L252F

16.03

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

GNPTG

TAS_F7219Y

chr16:
1402345-1402345

C

G

intronic

De novo

-

Satterstrom2020 E

GNPTG

Lim2017:37418

chr16:
1412838-1412838

C

T

exonic

De novo

nonsynonymous SNV

NM_032520

c.C754T

p.L252F

16.03

-

Lim2017 E

GNPTG

SP0125708

chr16:
1412855-1412855

A

G

exonic

De novo

synonymous SNV

NM_032520

c.A771G

p.K257K

-

Fu2022 E

GNPTG

SP0074810

chr16:
1412183-1412183

C

A

intronic

De novo

-

Fu2022 E

GNPTG

SP0085402

chr16:
1413151-1413151

G

A

UTR3

De novo

-

Fu2022 E

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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