Variant Results

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Results for "CASC3"

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

CASC3

1-0511-003

chr17:
38323503-38323503

C

T

intronic

De novo

-

-

Yuen2017 G

CASC3

Marques2022:118

chr17:
38320381-38320381

C

T

exonic

nonsynonymous SNV

NM_007359

c.C1433T

p.P478L

11.54

Marques2022 ET

CASC3

Marques2022:117

chr17:
38320381-38320381

C

T

exonic

nonsynonymous SNV

NM_007359

c.C1433T

p.P478L

11.54

Marques2022 ET

CASC3

Marques2022:120

chr17:
38324554-38324554

C

T

exonic

nonsynonymous SNV

NM_007359

c.C1849T

p.L617F

31.0

Marques2022 ET

CASC3

Marques2022:119

chr17:
38324454-38324454

A

G

splicing

splicing

22.0

-

Marques2022 ET

CASC3

Marques2022:114

chr17:
38296913-38296913

G

T

exonic

nonsynonymous SNV

NM_007359

c.G112T

p.G38C

18.61

-

Marques2022 ET

CASC3

AU063004

chr17:
38310925-38310925

G

C

intronic

De novo

-

-

Yuen2017 G

CASC3

Marques2022:116

chr17:
38318281-38318281

A

C

exonic

nonsynonymous SNV

NM_007359

c.A483C

p.K161N

12.69

-

Marques2022 ET

CASC3

Marques2022:115

chr17:
38318151-38318151

G

A

exonic

nonsynonymous SNV

NM_007359

c.G443A

p.S148N

14.52

-

Marques2022 ET

CASC3

SP0103631

chr17:
38296964-38296964

C

G

exonic

De novo

nonsynonymous SNV

NM_007359

c.C163G

p.R55G

15.01

-

Fu2022 E

CASC3

2-1296-003

chr17:
38309707-38309707

A

T

intronic

De novo

-

-

Yuen2017 G

CASC3

Marques2022:121

chr17:
38324554-38324554

C

T

exonic

nonsynonymous SNV

NM_007359

c.C1849T

p.L617F

31.0

Marques2022 ET

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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