Variant Results

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Results for "NT5DC1"

Variant Events: 15

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

NT5DC1

SJD_75.3

chr6:
116567366-116567366

A

G

downstream

De novo

-

-

Trost2022 G

NT5DC1

22364.p1

chr6:
116422116-116422116

C

T

exonic

nonsynonymous SNV

NM_152729

c.C23T

p.A8V

16.58

-

Zhou2022 GE

NT5DC1

2-0159-003

chr6:
116517337-116517337

A

G

intronic

De novo

-

-

Trost2022 G

NT5DC1

1-0332-003

chr6:
116454826-116454826

G

GGGC

intronic

De novo

-

-

Yuen2017 G

NT5DC1

SJD_66.3

chr6:
116538499-116538499

A

G

intronic

De novo

-

-

Trost2022 G

NT5DC1

Al-Mubarak2017:ASD-21

chr6:
116560148-116560148

T

C

exonic

Unknown

nonsynonymous SNV

NM_152729

c.T1114C

p.S372P

21.1

-

Al-Mubarak2017 E

NT5DC1

2-0132-004

chr6:
116554803-116554803

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NT5DC1

1-0563-004

chr6:
116517812-116517812

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NT5DC1

AU3997301

chr6:
116555204-116555204

A

G

intronic

De novo

-

-

Yuen2017 G

NT5DC1

3-0428-000

chr6:
116505520-116505520

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NT5DC1

AU2433302

chr6:
116467807-116467807

T

C

intronic

De novo

-

-

Yuen2017 G

NT5DC1

MT_189.3

chr6:
116425576-116425576

A

G

intronic

De novo

-

-

Trost2022 G

NT5DC1

1-0433-004

chr6:
116550875-116550875

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NT5DC1

AU3725302

chr6:
116478140-116478140

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NT5DC1

2-1315-003

chr6:
116478008-116478008

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
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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