Variant Results

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Results for "NGDN"

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

NGDN

mAGRE1362

chr14:
23944467-23944467

G

T

exonic

Maternal

stopgain

NM_001042635
NM_015514

c.G232T
c.G232T

p.G78X
p.G78X

32.0

Cirnigliaro2023 G

NGDN

mAGRE1361

chr14:
23944467-23944467

G

T

exonic

Maternal

stopgain

NM_001042635
NM_015514

c.G232T
c.G232T

p.G78X
p.G78X

32.0

Cirnigliaro2023 G

NGDN

2-1750-003

chr14:
23942584-23942587

ATAT

A

intronic

De novo

-

-

Trost2022 G

NGDN

mAGRE1360

chr14:
23944467-23944467

G

T

exonic

Maternal

stopgain

NM_001042635
NM_015514

c.G232T
c.G232T

p.G78X
p.G78X

32.0

Cirnigliaro2023 G

NGDN

AU1404302

chr14:
23944467-23944467

G

T

exonic

Paternal

stopgain

NM_001042635
NM_015514

c.G232T
c.G232T

p.G78X
p.G78X

32.0

Cirnigliaro2023 G

NGDN

iHART1362

chr14:
23944467-23944467

G

T

exonic

Maternal

stopgain

NM_001042635
NM_015514

c.G232T
c.G232T

p.G78X
p.G78X

32.0

Ruzzo2019 G

NGDN

AU1404301

chr14:
23944467-23944467

G

T

exonic

Paternal

stopgain

NM_001042635
NM_015514

c.G232T
c.G232T

p.G78X
p.G78X

32.0

Cirnigliaro2023 G

NGDN

08C73727

chr14:
23947252-23947252

T

C

UTR3

De novo

-

-

Satterstrom2020 E
Trost2022 G

NGDN

mAGRE4359

chr14:
23939302-23939302

C

T

exonic

Paternal

stopgain

NM_001042635
NM_015514

c.C64T
c.C64T

p.Q22X
p.Q22X

37.0

-

Cirnigliaro2023 G

NGDN

iHART1360

chr14:
23944467-23944467

G

T

exonic

Maternal

stopgain

NM_001042635
NM_015514

c.G232T
c.G232T

p.G78X
p.G78X

32.0

Ruzzo2019 G

NGDN

iHART1361

chr14:
23944467-23944467

G

T

exonic

Maternal

stopgain

NM_001042635
NM_015514

c.G232T
c.G232T

p.G78X
p.G78X

32.0

Ruzzo2019 G

NGDN

AU4315302

chr14:
23968433-23968433

G

T

intergenic

De novo

-

-

Yuen2017 G

NGDN

SP0050934

chr14:
23938930-23938930

G

A

exonic

De novo

synonymous SNV

NM_001042635
NM_015514

c.G6A
c.G6A

p.A2A
p.A2A

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NGDN

5-0014-004

chr14:
23942862-23942862

C

CATGTTTAA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NGDN

5-0014-003

chr14:
23942862-23942862

C

CATGTTTAA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NGDN

1-0408-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

NGDN

1-0408-003

chr14:
23977808-23977808

G

A

intergenic

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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