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Results for "FCHSD2"

Variant Events: 22

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
FCHSD2     7-0095-003chr11:
72822414-72822418
CTTCTCintronicDe novo--Yuen2017 G
FCHSD2     1-0160-004chr11:
72676430-72676430
GCintronicDe novo--Yuen2017 G
FCHSD2     1-0160-004chr11:
72565159-72565159
TAintronicDe novo--Yuen2017 G
FCHSD2     AU4496301chr11:
72880395-72880395
GAintergenicDe novo--Yuen2017 G
FCHSD2     7-0223-003chr11:
72668317-72668317
GAintronicDe novo--Yuen2017 G
FCHSD2     1-0559-004chr11:
72905954-72905954
CTintergenicDe novo--Yuen2017 G
FCHSD2     1-0049-004chr11:
72614407-72614407
GAintronicDe novo--Yuen2017 G
FCHSD2     1-0745-003chr11:
72643052-72643052
TGintronicDe novo--Yuen2017 G
FCHSD2     7-0100-004chr11:
72622214-72622214
TCintronicDe novo--Yuen2017 G
FCHSD2     2-1290-003chr11:
72792647-72792647
CTintronicDe novo--Yuen2017 G
FCHSD2     AU3635301chr11:
72586934-72586934
GTintronicDe novo--Yuen2017 G
FCHSD2     2-0127-004chr11:
72778930-72778930
TCintronicDe novo--Yuen2017 G
FCHSD2     7-0024-005chr11:
72722229-72722229
GAintronicDe novo--Yuen2017 G
FCHSD2     Lim2017:31783chr11:
72598608-72598608
ACexonicMosaicnonsynonymous SNVNM_014824c.T1053Gp.D351E2.661-Lim2017 E
FCHSD2     1-0265-003chr11:
72756546-72756546
GAintronicDe novo--Yuen2017 G
FCHSD2     A17chr11:
72754077-72754077
ACintronicDe novo--Wu2018 G
FCHSD2     1-0826-004chr11:
72699279-72699279
CTintronicDe novo--Yuen2017 G
FCHSD2     AU3907302chr11:
72856427-72856427
CTintergenicDe novo--Yuen2017 G
FCHSD2     14093.p1chr11:
72598608-72598608
ACexonicMosaicnonsynonymous SNVNM_014824c.T1053Gp.D351E2.661-Krupp2017 E
FCHSD2     2-0158-003chr11:
72769039-72769039
CGintronicDe novo--Yuen2017 G
FCHSD2     NDAR_INVWP471YM8_wes1chr11:
72700034-72700034
GAexonicstopgainNM_014824c.C496Tp.R166X36.0-Doan2019 E
FCHSD2     1-0338-005chr11:
72571011-72571011
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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