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Results for "RASGRF1"

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
RASGRF1     7-0001-003chr15:
79358637-79358637
GAintronicDe novo--Yuen2017 G
RASGRF1     1474001chr15:
79317756-79317756
GAexonicDe novononsynonymous SNVNM_001145648
NM_002891
c.C1442T
c.C1442T
p.S481F
p.S481F
22.3-Satterstrom2020 E
RASGRF1     2-1154-003chr15:
79256500-79256500
GAintronicDe novo--Yuen2016 G
Yuen2017 G
RASGRF1     AU4092302chr15:
79397515-79397515
GAintergenicDe novo--Yuen2017 G
RASGRF1     2-0238-004chr15:
79451695-79451695
GAintergenicDe novo--Yuen2017 G
RASGRF1     2-1169-003chr15:
79474942-79474942
CCTTCTTTCTTTCTTintergenicDe novo--Yuen2017 G
RASGRF1     G01-GEA-49-HIchr15:
79298659-79298659
CTexonicDe novosynonymous SNVNM_001145648
NM_002891
c.G1944A
c.G1983A
p.T648T
p.T661T
-3.296E-5Lim2017 E
Satterstrom2020 E
RASGRF1     AU046703chr15:
79277953-79277953
AGintronicDe novo--Yuen2017 G
RASGRF1     2-1407-003chr15:
79288675-79288675
CTintronicDe novo--Yuen2016 G
Yuen2017 G
RASGRF1     11583.p1chr15:
79298496-79298496
CTintronicDe novo-8.274E-6Satterstrom2020 E
RASGRF1     2-1261-004chr15:
79474974-79474978
CTCTTCintergenicDe novo--Yuen2017 G
RASGRF1     1-0181-004chr15:
79351957-79351957
CTintronicDe 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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