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Results for "FHOD3"

Variant Events: 23

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
FHOD3     2-0149-004chr18:
34010386-34010386
TGintronicDe novo--Yuen2017 G
FHOD3     2-1129-003chr18:
34095724-34095724
TGintronicDe novo--Yuen2016 G
Yuen2017 G
FHOD3     5-0099-003chr18:
34270734-34270734
ACintronicDe novo--Yuen2017 G
FHOD3     AU030103chr18:
34281094-34281094
GAintronicDe novo--Yuen2017 G
FHOD3     JASD_Fam0151chr18:
33877804-33877804
CTexonicDe novosynonymous SNVNM_001281739
NM_001281740
NM_025135
c.C6T
c.C6T
c.C6T
p.A2A
p.A2A
p.A2A
--Takata2018 E
FHOD3     1-0458-004chr18:
34329603-34329603
CTintronicDe novo--Yuen2017 G
FHOD3     AU030104chr18:
34281094-34281094
GAintronicDe novo--Yuen2017 G
FHOD3     G01-GEA-104-HIchr18:
34297863-34297863
CTexonicDe novononsynonymous SNVNM_001281739
NM_025135
NM_001281740
c.C2026T
c.C2077T
c.C2602T
p.R676W
p.R693W
p.R868W
16.591.677E-5Satterstrom2020 E
FHOD3     1-0107-003chr18:
33961699-33961699
AGintronicDe novo--Yuen2016 G
Yuen2017 G
FHOD3     AU000704chr18:
34349233-34349233
ATexonicDe novononsynonymous SNVNM_001281739
NM_025135
NM_001281740
c.A4030T
c.A4081T
c.A4630T
p.T1344S
p.T1361S
p.T1544S
6.069-Yuen2017 G
FHOD3     3-0216-000chr18:
34296397-34296397
GAintronicDe novo--Yuen2017 G
FHOD3     3-0469-000chr18:
34231122-34231122
GAintronicDe novo--Yuen2017 G
FHOD3     2-1297-004chr18:
33952343-33952344
TATintronicDe novo--Yuen2017 G
FHOD3     2-1255-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
FHOD3     1-0683-004chr18:
33883415-33883415
TCintronicDe novo--Yuen2017 G
FHOD3     AU4056301chr18:
34343184-34343184
CTintronicDe novo--Yuen2017 G
FHOD3     1-0186-004chr18:
34226047-34226047
GAintronicDe novo--Yuen2017 G
FHOD3     AU4308302chr18:
34038946-34038946
GAintronicDe novo--Yuen2017 G
FHOD3     2-1364-003chr18:
34168683-34168691
GTTTGTTTTGTTTintronicDe novo--Yuen2017 G
FHOD3     AU011903chr18:
33962431-33962431
AGintronicDe novo--Yuen2017 G
FHOD3     2-1378-003chr18:
34003925-34003925
CTintronicDe novo--Yuen2017 G
FHOD3     1-0052-004chr18:
34065539-34065539
GAintronicDe novo--Yuen2017 G
FHOD3     AU3506303chr18:
34051837-34051837
TAintronicDe 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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