Variant Results

or

or

Results for "NUDCD1"

Variant Events: 19

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

NUDCD1

13306.p1

chr8:
110255473-110255473

G

A

exonic

De novo

nonsynonymous SNV

NM_001128211
NM_032869

c.C1430T
c.C1517T

p.S477L
p.S506L

34.0

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NUDCD1

7-0127-003

chr8:
110298543-110298543

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NUDCD1

Lim2017:68751

chr8:
110255473-110255473

G

A

exonic

De novo

nonsynonymous SNV

NM_001128211
NM_032869

c.C1430T
c.C1517T

p.S477L
p.S506L

34.0

Lim2017 E

NUDCD1

iHART2039

chr8:
110305657-110305657

G

A

exonic

Paternal

stopgain

NM_001128211
NM_032869

c.C469T
c.C556T

p.R157X
p.R186X

39.0

-

Ruzzo2019 G

NUDCD1

iHART2036

chr8:
110305657-110305657

G

A

exonic

Paternal

stopgain

NM_001128211
NM_032869

c.C469T
c.C556T

p.R157X
p.R186X

39.0

-

Ruzzo2019 G

NUDCD1

AU4072303

chr8:
110324154-110324154

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NUDCD1

SP0081962

chr8:
110346093-110346093

G

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G
Trost2022 G

NUDCD1

MSSNG00047-004A

chr8:
110259105-110259105

T

C

intronic

De novo

-

-

Trost2022 G

NUDCD1

mAGRE2039

chr8:
110305657-110305657

G

A

exonic

Paternal

stopgain

NM_001128211
NM_032869

c.C469T
c.C556T

p.R157X
p.R186X

39.0

-

Cirnigliaro2023 G

NUDCD1

REACH000423

chr8:
110304866-110304866

A

T

intronic

De novo

-

-

Trost2022 G

NUDCD1

mAGRE2036

chr8:
110305657-110305657

G

A

exonic

Paternal

stopgain

NM_001128211
NM_032869

c.C469T
c.C556T

p.R157X
p.R186X

39.0

-

Cirnigliaro2023 G

NUDCD1

mAGRE4856

chr8:
110287630-110287631

TG

T

exonic

Maternal

frameshift deletion

NM_001128211
NM_032869

c.1036delC
c.1123delC

p.Q346fs
p.Q375fs

-

-

Cirnigliaro2023 G

NUDCD1

mAGRE4855

chr8:
110287630-110287631

TG

T

exonic

Maternal

frameshift deletion

NM_001128211
NM_032869

c.1036delC
c.1123delC

p.Q346fs
p.Q375fs

-

-

Cirnigliaro2023 G

NUDCD1

68751

chr8:
110255473-110255473

G

A

exonic

De novo

nonsynonymous SNV

NM_001128211
NM_032869

c.C1430T
c.C1517T

p.S477L
p.S506L

34.0

Fu2022 E
Trost2022 G

NUDCD1

MSSNG00100-004

chr8:
110337395-110337395

A

C

intronic

De novo

-

-

Trost2022 G

NUDCD1

2-1116-003

chr8:
110298284-110298304

CAATAATAATAATAATAATAA

CAATAATAATAATAATAA

intronic

De novo

-

-

Yuen2017 G

NUDCD1

REACH000423

chr8:
110305244-110305244

G

C

intronic

De novo

-

-

Trost2022 G

NUDCD1

2-1228-003

chr8:
110344984-110344984

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NUDCD1

7-0402-003

chr8:
110320928-110320928

C

T

intronic

De novo

-

-

Trost2022 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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