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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     3-0428-000chr3:
4520733-4520733
GAintergenicDe novo--Yuen2017 G
SUMF1     AU4099301chr3:
4505332-4505332
CAintronicDe novo--Yuen2017 G
SUMF1     Al-Mubarak2017:ASD-43chr3:
4458867-4458867
TCexonicUnknownnonsynonymous SNVNM_001164674
NM_001164675
NM_182760
c.A710G
c.A785G
c.A785G
p.Q237R
p.Q262R
p.Q262R
22.2-Al-Mubarak2017 E
SUMF1     1-0006-004chr3:
4427396-4427396
GCintronicDe novo--Yuen2017 G
SUMF1     1-0104-004chr3:
4511155-4511155
CGintergenicDe novo--Yuen2017 G
SUMF1     7-0148-003chr3:
4515873-4515873
TCintergenicDe novo--Yuen2017 G
SUMF1     1-0104-004chr3:
4510367-4510367
AGintergenicDe novo--Yuen2017 G
SUMF1     AU4235301chr3:
4489388-4489388
AGintronicDe novo--Yuen2017 G
SUMF1     2-1120-003chr3:
4417359-4417359
TAintronicDe novo--Yuen2017 G
SUMF1     EGAN00001101251chr3:
4491064-4491064
TCintronicDe novo--Satterstrom2020 E
SUMF1     2-1702-004chr3:
4499373-4499373
TCintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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