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Results for "FAM193A"

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
FAM193A     1-0677-003chr4:
2626158-2626165
ACTGCCCCACTGCCCCTGCCCCupstreamDe novo--Yuen2017 G
FAM193A     AU3175302chr4:
2687112-2687112
AGintronicDe novo--Yuen2017 G
FAM193A     11536.p1chr4:
2661403-2661403
GTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
FAM193A     5-0017-003chr4:
2709337-2709337
GGCAATTintronicDe novo--Yuen2017 G
FAM193A     5-0140-003chr4:
2660782-2660782
CTintronicDe novo--Yuen2017 G
FAM193A     AU076705chr4:
2654555-2654555
AGintronicDe novo--Yuen2017 G
FAM193A     11561.p1chr4:
2661708-2661708
GAexonicMosaicnonsynonymous SNVNM_001256666
NM_001256668
NM_003704
NM_001256667
c.G799A
c.G799A
c.G799A
c.G871A
p.G267S
p.G267S
p.G267S
p.G291S
14.338.245E-6Dou2017 E
FAM193A     2-1461-003chr4:
2712650-2712650
CTintronicDe novo--Yuen2016 G
Yuen2017 G
FAM193A     1333002chr4:
2664693-2664693
GAexonicDe novononsynonymous SNVNM_001256666
NM_001256668
NM_003704
NM_001256667
c.G1001A
c.G1001A
c.G1001A
c.G1067A
p.G334E
p.G334E
p.G334E
p.G356E
13.58-Satterstrom2020 E
FAM193A     G01-GEA-227-HIchr4:
2661571-2661571
TCexonicDe novononsynonymous SNVNM_001256666
NM_001256668
NM_003704
NM_001256667
c.T662C
c.T662C
c.T662C
c.T734C
p.I221T
p.I221T
p.I221T
p.I245T
24.2-Satterstrom2020 E
FAM193A     1-0252-003chr4:
2702359-2702359
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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