Variant Results

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Results for "NDC80"

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

NDC80

4-0014-003

chr18:
2613757-2613757

T

A

intronic

De novo

-

-

Trost2022 G

NDC80

1-0028-003

chr18:
2634204-2634204

C

G

intergenic

De novo

-

-

Yuen2017 G

NDC80

AU4476302

chr18:
2614426-2614426

T

G

intronic

De novo

-

-

Trost2022 G

NDC80

12842.p1

chr18:
2595619-2595619

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_006101

c.C1220T

p.A407V

14.91

Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E

NDC80

MSSNG00257-004

chr18:
2580133-2580134

CA

C

intronic

De novo

-

-

Trost2022 G

NDC80

3-0663-000

chr18:
2584359-2584359

A

AT

intronic

De novo

-

-

Trost2022 G

NDC80

AU2525302

chr18:
2593869-2593869

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NDC80

SP0008634

chr18:
2577754-2577754

A

C

exonic

Mosaic

synonymous SNV

NM_006101

c.A189C

p.G63G

-

-

Feliciano2019 E

NDC80

iHART2719

chr18:
2610795-2610795

C

T

exonic

Maternal

stopgain

NM_006101

c.C1726T

p.R576X

37.0

Ruzzo2019 G

NDC80

12493.p1

chr18:
2640580-2640580

A

C

intergenic

De novo

-

-

Turner2016 G

NDC80

1-0152-004

chr18:
2616525-2616525

A

C

exonic

nonsynonymous SNV

NM_006101

c.A1881C

p.R627S

0.637

-

Zhou2022 GE

NDC80

AU4392301

chr18:
2596837-2596837

A

G

intronic

De novo

-

-

Yuen2017 G

NDC80

REACH000336

chr18:
2589309-2589309

G

A

exonic

De novo

synonymous SNV

NM_006101

c.G870A

p.P290P

-

-

Trost2022 G
Zhou2022 GE

NDC80

mAGRE2719

chr18:
2610795-2610795

C

T

exonic

Maternal

stopgain

NM_006101

c.C1726T

p.R576X

37.0

Cirnigliaro2023 G

NDC80

MSSNG00006-003

chr18:
2616525-2616525

A

C

exonic

nonsynonymous SNV

NM_006101

c.A1881C

p.R627S

0.637

-

Zhou2022 GE

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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