or
or
Exact

Results for "FCHSD1"

Variant Events: 13

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
FCHSD1     PN400117chr5:
141021291-141021291		AGexonicDe novononsynonymous SNVNM_033449c.T1985Cp.M662T0.398-Leblond2019 E
FCHSD1     1-0669-003chr5:
141023082-141023082		AGintronicDe novo--Trost2022 G
Yuen2017 G
FCHSD1     MSSNG00199-003chr5:
141026478-141026478		GCintronicDe novo--Trost2022 G
FCHSD1     iHART3206chr5:
141030914-141030914		CGsplicingMaternalsplicing11.651.0E-4Ruzzo2019 G
FCHSD1     AU3859301chr5:
141030914-141030914		CGsplicingMaternalsplicing11.651.0E-4Cirnigliaro2023 G
FCHSD1     iHART1192chr5:
141025395-141025395		CCACCTexonicMaternalframeshift insertionNM_033449c.1253_1254insAGGTp.V418fs--Ruzzo2019 G
FCHSD1     mAGRE5489chr5:
141027645-141027645		GAexonicPaternalstopgainNM_033449c.C595Tp.Q199X23.58.625E-6Cirnigliaro2023 G
FCHSD1     SP0018452chr5:
141024602-141024602		CGexonicDe novosynonymous SNVNM_033449c.G1425Cp.V475V--Fu2022 E
Trost2022 G
Zhou2022 GE
FCHSD1     mAGRE5956chr5:
141027046-141027047		CACexonicMaternalframeshift deletionNM_033449c.746delTp.L249fs--Cirnigliaro2023 G
FCHSD1     AU026412chr5:
141025456-141025456		CTexonicDe novononsynonymous SNVNM_033449c.G1193Ap.G398E0.164-Trost2022 G
Yuen2017 G
Zhou2022 GE
FCHSD1     mAGRE5955chr5:
141027046-141027047		CACexonicMaternalframeshift deletionNM_033449c.746delTp.L249fs--Cirnigliaro2023 G
FCHSD1     SP0114604chr5:
141029909-141029909		AGintronicDe novo--Fu2022 E
Trost2022 G
FCHSD1     mAGRE1192chr5:
141025395-141025395		CCACCTexonicMaternalframeshift insertionNM_033449c.1253_1254insAGGTp.V418fs--Cirnigliaro2023 G
Source Variant Information

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us