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Results for "TMC4"

Variant Events: 10

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
TMC4     iHART1530chr19:
54664866-54664866
CAsplicingMaternalsplicing19.55-Ruzzo2019 G
TMC4     iHART1528chr19:
54664866-54664866
CAsplicingMaternalsplicing19.55-Ruzzo2019 G
TMC4     ASC_CA_77_Achr19:
54673402-54673402
GTintronicDe novo--Fu2022 E
Satterstrom2020 E
TMC4     EGAN00001101354chr19:
54676732-54676732
ACsplicingDe novosplicing9.783.346E-5Satterstrom2020 E
TMC4     SP0076755chr19:
54673394-54673394
TCexonicDe novononsynonymous SNVNM_001145303
NM_144686
c.A316G
c.A298G
p.R106G
p.R100G
8.807-Fu2022 E
TMC4     1-0346-004chr19:
54673086-54673086
CCTCAGintronicDe novo--Yuen2017 G
TMC4     12630.p1chr19:
54672377-54672377
AGexonicDe novononsynonymous SNVNM_001145303
NM_144686
c.T490C
c.T472C
p.F164L
p.F158L
33.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
TMC4     JASD_Fam0154chr19:
54666461-54666461
GTexonicDe novononsynonymous SNVNM_001145303
NM_144686
c.C1465A
c.C1447A
p.L489I
p.L483I
0.132-Takata2018 E
TMC4     08C77631chr19:
54664623-54664623
CTexonicDe novosynonymous SNVNM_001145303
NM_144686
c.G1983A
c.G1965A
p.L661L
p.L655L
--Fu2022 E
Satterstrom2020 E
TMC4     SP0146401chr19:
54667455-54667455
CAsplicingDe novosplicing13.75-Fu2022 E
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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