Variant Results

or

Results for "C10orf76"

Variant Events: 56

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

C10orf76

1-0467-005

chr10:
103646018-103646018

G

C

intronic

De novo

-

Yuen2017 G

C10orf76

4-0046-003

chr10:
103645682-103645682

T

C

intronic

De novo

-

Trost2022 G

C10orf76

1-0467-005

chr10:
103645763-103645763

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

C10orf76

4-0046-003

chr10:
103645686-103645686

T

C

intronic

De novo

-

Trost2022 G

C10orf76

4-0046-003

chr10:
103645670-103645672

TGA

CGG

intronic

De novo

-

Trost2022 G

C10orf76

4-0046-003

chr10:
103645677-103645677

G

A

intronic

De novo

-

Trost2022 G

C10orf76

63-449

chr10:
103608373-103608373

C

T

intronic

De novo

-

Michaelson2012 G

C10orf76

REACH000419

chr10:
103627294-103627294

C

T

intronic

De novo

-

Trost2022 G

C10orf76

AU055603

chr10:
103688129-103688129

T

C

intronic

De novo

-

Trost2022 G

C10orf76

1-1183-003

chr10:
103712391-103712391

G

C

intronic

De novo

-

Trost2022 G

C10orf76

MSSNG00172-003

chr10:
103674423-103674423

G

C

intronic

De novo

-

Trost2022 G

C10orf76

MSSNG00409-003

chr10:
103676857-103676857

T

C

intronic

De novo

-

Trost2022 G

C10orf76

1024

chr10:
103664566-103664566

G

C

intronic

De novo

-

Trost2022 G

C10orf76

MSSNG00399-003

chr10:
103664720-103664724

AAAAG

A

intronic

De novo

-

Trost2022 G

C10orf76

4-0046-003

chr10:
103645694-103645694

A

G

intronic

De novo

-

Trost2022 G

C10orf76

2-0223-004

chr10:
103646231-103646231

T

C

intronic

De novo

-

Trost2022 G

C10orf76

REACH000173

chr10:
103755460-103755460

C

G

intronic

De novo

-

Trost2022 G

C10orf76

IBS-ASD-13003-blood-wgs-ILLUMINA

chr10:
103763965-103763965

T

C

intronic

De novo

-

Kim2024 G

C10orf76

2-1261-003

chr10:
103760378-103760381

TTAT

GG

intronic

De novo

-

Trost2022 G

C10orf76

IBS-ASD-13123-blood-wgs-ILLUMINA

chr10:
103701674-103701674

C

T

intronic

De novo

-

Kim2024 G

C10orf76

1-0286-004

chr10:
103726758-103726758

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

C10orf76

2-0198-003

chr10:
103735738-103735740

TGC

CGT

intronic

De novo

-

Trost2022 G

C10orf76

IBS-ASD-17143-blood-wgs-ILLUMINA

chr10:
103700667-103700667

T

C

intronic

De novo

-

Kim2024 G

C10orf76

MSSNG00421-009

chr10:
103742121-103742121

T

C

intronic

De novo

-

Trost2022 G

C10orf76

IBS-ASD-17323-blood-wgs-ILLUMINA

chr10:
103685227-103685227

C

T

intronic

De novo

-

Kim2024 G

C10orf76

1-0139-003

chr10:
103646261-103646261

T

C

intronic

De novo

-

Yuen2017 G

C10orf76

2-0198-003

chr10:
103735725-103735727

CAA

AAC

intronic

De novo

-

Trost2022 G

C10orf76

2-1277-004

chr10:
103735738-103735740

TGC

CGT

intronic

De novo

-

Trost2022 G

C10orf76

E3F6Y_01

chr10:
103719827-103719827

C

T

intronic

De novo

-

Trost2022 G

C10orf76

AU2075302

chr10:
103703637-103703637

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

C10orf76

2-1277-004

chr10:
103735725-103735727

CAA

AAC

intronic

De novo

-

Trost2022 G

C10orf76

5-0003-004

chr10:
103646245-103646245

T

C

intronic

De novo

-

Yuen2017 G

C10orf76

3-0489-000

chr10:
103793772-103793772

C

G

intronic

De novo

-

Trost2022 G

C10orf76

7-0233-003

chr10:
103798321-103798335

CCAGGGTTCAAATCA

C

intronic

De novo

-

Trost2022 G

C10orf76

5-5170-003

chr10:
103790139-103790139

A

G

intronic

De novo

-

Trost2022 G

C10orf76

2-1734-004

chr10:
103792592-103792592

T

C

intronic

De novo

-

Trost2022 G

C10orf76

REACH000754

chr10:
103772052-103772052

T

A

intronic

De novo

-

Trost2022 G

C10orf76

7-0286-003A

chr10:
103775563-103775563

T

C

intronic

De novo

-

Trost2022 G

C10orf76

2-1261-003

chr10:
103760387-103760391

TATAA

CGCGG

intronic

De novo

-

Trost2022 G

C10orf76

2-1261-003

chr10:
103760395-103760396

TG

CT

intronic

De novo

-

Trost2022 G

C10orf76

IBS-ASD-18363-blood-wgs-ILLUMINA

chr10:
103794601-103794601

G

C

intronic

De novo

-

Kim2024 G

C10orf76

1-0138-004

chr10:
103646181-103646181

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

C10orf76

1-0700-004

chr10:
103815761-103815761

C

A

intronic

De novo

-

Trost2022 G

C10orf76

mAGRE5961

chr10:
103784956-103784957

CT

C

exonic

Paternal

frameshift deletion

NM_024541

c.463delA

p.S155fs

-

Cirnigliaro2023 G

C10orf76

2-1366-004

chr10:
103735851-103735851

A

G

intronic

De novo

-

Yuen2017 G

C10orf76

AU3680302

chr10:
103801148-103801148

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

C10orf76

mAGRE5960

chr10:
103784956-103784957

CT

C

exonic

Paternal

frameshift deletion

NM_024541

c.463delA

p.S155fs

-

Cirnigliaro2023 G

C10orf76

1-0551-003

chr10:
103681598-103681598

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

C10orf76

AU1404302

chr10:
103719228-103719228

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

C10orf76

2-1485-003

chr10:
103646018-103646018

G

C

intronic

De novo

-

Yuen2017 G

C10orf76

2-0310-003

chr10:
103646253-103646253

T

C

intronic

De novo

-

Yuen2017 G

C10orf76

1-0534-004

chr10:
103646261-103646261

T

C

intronic

De novo

-

Yuen2017 G

C10orf76

2-1644-004

chr10:
103612251-103612251

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

C10orf76

1-0219-003

chr10:
103646181-103646181

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

C10orf76

AU2072302

chr10:
103810029-103810029

C

T

intronic

De novo

-

Yuen2017 G

C10orf76

2-1297-004

chr10:
103646245-103646245

T

C

intronic

De novo

-

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
	More