Variant Results

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Results for "SUMF1"

Variant Events: 11

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

SUMF1

3-0428-000

chr3:
4520733-4520733

G

A

intergenic

De novo

-

-

Yuen2017 G

SUMF1

1-0006-004

chr3:
4427396-4427396

G

C

intronic

De novo

-

-

Yuen2017 G

SUMF1

AU4099301

chr3:
4505332-4505332

C

A

intronic

De novo

-

-

Yuen2017 G

SUMF1

Al-Mubarak2017:ASD-43

chr3:
4458867-4458867

T

C

exonic

Unknown

nonsynonymous SNV

NM_001164674
NM_001164675
NM_182760

c.A710G
c.A785G
c.A785G

p.Q237R
p.Q262R
p.Q262R

22.2

-

Al-Mubarak2017 E

SUMF1

1-0104-004

chr3:
4511155-4511155

C

G

intergenic

De novo

-

-

Yuen2017 G

SUMF1

7-0148-003

chr3:
4515873-4515873

T

C

intergenic

De novo

-

-

Yuen2017 G

SUMF1

1-0104-004

chr3:
4510367-4510367

A

G

intergenic

De novo

-

-

Yuen2017 G

SUMF1

AU4235301

chr3:
4489388-4489388

A

G

intronic

De novo

-

-

Yuen2017 G

SUMF1

2-1120-003

chr3:
4417359-4417359

T

A

intronic

De novo

-

-

Yuen2017 G

SUMF1

EGAN00001101251

chr3:
4491064-4491064

T

C

intronic

De novo

-

-

Satterstrom2020 E

SUMF1

2-1702-004

chr3:
4499373-4499373

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
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