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Results for "SH3RF3"

Variant Events: 42

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
SH3RF3     AU2129303chr2:
109936643-109936643
CTintronicDe novo--Yuen2017 G
SH3RF3     2-0299-003chr2:
109752338-109752338
AGintronicDe novo--Yuen2017 G
SH3RF3     2-1382-003chr2:
110072786-110072790
AGGGGAGGGintronicDe novo--Yuen2017 G
SH3RF3     2-1362-004chr2:
110259458-110259458
CGUTR3De novo--Yuen2017 G
SH3RF3     AU3051303chr2:
110094030-110094035
TGTAGTTGTintronicDe novo--Yuen2017 G
SH3RF3     2-1384-003chr2:
109762519-109762519
AGintronicDe novo--Yuen2017 G
SH3RF3     5-0015-003chr2:
110277983-110277995
CCCTGGCCAACATCintergenicDe novo--Yuen2017 G
SH3RF3     2-0144-003chr2:
110100413-110100413
TCintronicDe novo--Yuen2017 G
SH3RF3     1-0484-003chr2:
109760223-109760223
CCAintronicDe novo--Yuen2017 G
SH3RF3     SP0020685chr2:
110049097-110049098
TCTexonicDe novoframeshift deletionNM_001099289c.1545delCp.F515fs--Feliciano2019 E
SH3RF3     AU4054302chr2:
110063621-110063621
AGintronicDe novo--Yuen2017 G
SH3RF3     AU4344301chr2:
110275551-110275551
GAintergenicDe novo--Yuen2017 G
SH3RF3     2-1391-003chr2:
110251347-110251347
CCCATATACATTAintronicDe novo--Yuen2017 G
SH3RF3     2-0129-005chr2:
109841733-109841733
GAintronicDe novo--Yuen2017 G
SH3RF3     1-0862-003chr2:
109760223-109760223
CCAintronicDe novo--Yuen2017 G
SH3RF3     A15chr2:
110036859-110036859
TAintronicDe novo--Wu2018 G
SH3RF3     1-0271-003chr2:
109760223-109760223
CCAintronicDe novo--Yuen2017 G
SH3RF3     12759.p1chr2:
110107166-110107166
GAexonicMosaicnonsynonymous SNVNM_001099289c.G2254Ap.V752M3.338-Dou2017 E
SH3RF3     2-0013-003chr2:
110277983-110277995
CCCTGGCCAACATCintergenicDe novo--Yuen2017 G
SH3RF3     2-1267-003chr2:
110271115-110271115
TGintergenicDe novo--Yuen2017 G
SH3RF3     7-0097-003chr2:
110028738-110028738
GAintronicDe novo--Yuen2017 G
SH3RF3     11484.p1chr2:
109961258-109961258
AGintronicMosaic Pat., De novo--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
SH3RF3     1-0158-003chr2:
109760223-109760223
CCAintronicDe novo--Yuen2017 G
SH3RF3     1-0439-003chr2:
109938219-109938219
TAintronicDe novo--Yuen2016 G
Yuen2017 G
SH3RF3     1-0203-004chr2:
109983304-109983304
GAintronicDe novo--Yuen2017 G
SH3RF3     AU2100302chr2:
109758174-109758174
ACintronicDe novo--Yuen2017 G
SH3RF3     2-1085-004chr2:
110267074-110267074
GAintergenicDe novo--Yuen2017 G
SH3RF3     1-0547-003chr2:
110272476-110272476
TCintergenicDe novo--Yuen2017 G
SH3RF3     7-0024-003chr2:
110021133-110021134
GCGintronicDe novo--Yuen2017 G
SH3RF3     1-0559-004chr2:
110278749-110278749
TGintergenicDe novo--Yuen2017 G
SH3RF3     1-0043-003chr2:
109866270-109866270
GAintronicDe novo--Yuen2017 G
SH3RF3     AU1404301chr2:
109868230-109868237
CAAAAAAACAAAAAAintronicDe novo--Yuen2017 G
SH3RF3     2-1277-003chr2:
109760223-109760223
CCAintronicDe novo--Yuen2017 G
SH3RF3     5-0015-004chr2:
110277983-110277995
CCCTGGCCAACATCintergenicDe novo--Yuen2017 G
SH3RF3     2-1487-003chr2:
110299108-110299108
CTintergenicDe novo--Yuen2017 G
SH3RF3     14091.p1chr2:
110015021-110015021
CTintronicDe novo--Satterstrom2020 E
SH3RF3     AU3124304chr2:
110262040-110262040
GAUTR3De novo--Yuen2017 G
SH3RF3     AU4093302chr2:
110090886-110090886
GAintronicDe novo--Yuen2017 G
SH3RF3     2-1290-003chr2:
110278370-110278370
TCintergenicDe novo--Yuen2017 G
SH3RF3     12837.p1chr2:
110259207-110259207
CTexonicDe novononsynonymous SNVNM_001099289c.C2608Tp.R870C18.171.0E-4Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SH3RF3     11341.p1chr2:
109923523-109923523
TCintronicDe novo--Turner2016 G
SH3RF3     13946.p1chr2:
109933278-109933278
CGintronicDe novo--Turner2016 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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