Variant Results

or

or

Results for "CATSPERB"

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

CATSPERB

MSSNG00435-003

chr14:
92177396-92177396

G

A

intronic

De novo

-

-

Trost2022 G

CATSPERB

7-0227-003

chr14:
92116001-92116005

CATTT

AAAAAAA

intronic

De novo

-

-

Trost2022 G

CATSPERB

AU026412

chr14:
92061722-92061722

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CATSPERB

5-0019-003

chr14:
92149072-92149072

C

T

intronic

De novo

-

-

Trost2022 G

CATSPERB

mAGRE1829

chr14:
92174572-92174572

C

CT

exonic

Paternal

frameshift insertion

NM_024764

c.378dupA

p.A127fs

-

-

Cirnigliaro2023 G

CATSPERB

REACH000520

chr14:
92097074-92097074

G

T

intronic

De novo

-

-

Trost2022 G

CATSPERB

iHART1829

chr14:
92174572-92174572

C

CT

exonic

Paternal

frameshift insertion

NM_024764

c.378dupA

p.A127fs

-

-

Ruzzo2019 G

CATSPERB

5-0039-003

chr14:
92103648-92103648

C

T

intronic

De novo

-

-

Trost2022 G

CATSPERB

2-1215-003

chr14:
92131682-92131682

A

G

intronic

De novo

-

-

Yuen2017 G

CATSPERB

2-1592-003

chr14:
92217279-92217279

A

G

intergenic

De novo

-

-

Yuen2017 G

CATSPERB

AU002903

chr14:
92244680-92244686

GTCTTCT

GTCT

intergenic

De novo

-

-

Yuen2017 G

CATSPERB

MSSNG00158-003

chr14:
92076756-92076756

G

T

intronic

De novo

-

-

Trost2022 G

CATSPERB

2-1283-003

chr14:
92154026-92154026

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CATSPERB

REACH000520

chr14:
92097071-92097071

C

G

intronic

De novo

-

-

Trost2022 G

CATSPERB

2-1283-004

chr14:
92154026-92154026

C

T

intronic

De novo

-

-

Yuen2017 G

CATSPERB

REACH000643

chr14:
92073450-92073450

T

G

intronic

De novo

-

-

Trost2022 G

CATSPERB

7-0055-003

chr14:
92221908-92221912

TACAG

T

intergenic

De novo

-

-

Yuen2017 G

CATSPERB

1-0976-003

chr14:
92134158-92134158

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CATSPERB

AU3761302

chr14:
92100189-92100189

G

A

intronic

De novo

-

-

Trost2022 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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