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Results for "TMCC1"

Variant Events: 25

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
TMCC1     MSSNG00332-003chr3:
129481222-129481222
AGintronicDe novo--Trost2022 G
TMCC1     SMHC01890s000chr3:
129547043-129547043
CTexonicDe novononsynonymous SNVNM_001017395c.G179Ap.R60H28.4-Yuan2023 E
TMCC1     MSSNG00257-003chr3:
129483034-129483034
TGintronicDe novo--Trost2022 G
TMCC1     10-1129-005chr3:
129463099-129463099
CTintronicDe novo--Trost2022 G
TMCC1     4-0040-003chr3:
129471347-129471347
TCintronicDe novo--Trost2022 G
TMCC1     MSSNG00423-004chr3:
129447165-129447165
GAintronicDe novo--Trost2022 G
TMCC1     5-0101-003chr3:
129449879-129449879
AGintronicDe novo--Trost2022 G
TMCC1     3-0534-000chr3:
129395415-129395415
GCintronicDe novo--Trost2022 G
TMCC1     4-0023-004chr3:
129434356-129434356
TCintronicDe novo--Trost2022 G
TMCC1     2-1306-003chr3:
129604735-129604739
ACGACGCCATintronicDe novo--Trost2022 G
TMCC1     7-0484-003chr3:
129537293-129537293
TCintronicDe novo--Trost2022 G
TMCC1     AU008505chr3:
129445277-129445277
GAintronicDe novo--Trost2022 G
Yuen2017 G
TMCC1     3-0091-000chr3:
129604655-129604655
GAintronicDe novo--Trost2022 G
TMCC1     7-0449-003chr3:
129522747-129522747
GAintronicDe novo--Trost2022 G
TMCC1     7-0288-004chr3:
129537293-129537293
TCintronicDe novo--Trost2022 G
TMCC1     3-0019-000chr3:
129485627-129485627
ACintronicDe novo--Trost2022 G
TMCC1     1-1020-003Achr3:
129495518-129495518
TCintronicDe novo--Trost2022 G
TMCC1     2-1250-003chr3:
129604655-129604655
GAintronicDe novo--Yuen2017 G
TMCC1     AU3680302chr3:
129583692-129583692
GCintronicDe novo--Trost2022 G
Yuen2017 G
TMCC1     1-0320-004chr3:
129401735-129401735
AGintronicDe novo--Trost2022 G
Yuen2017 G
TMCC1     1-0347-003chr3:
129377404-129377404
CTintronicDe novo--Trost2022 G
Yuen2017 G
TMCC1     AU4263304chr3:
129581903-129581903
TGintronicDe novo--Trost2022 G
Yuen2017 G
TMCC1     2-1138-003chr3:
129447914-129447914
GAintronicDe novo--Trost2022 G
Yuen2017 G
TMCC1     5-5231-003chr3:
129383110-129383110
TCintronicDe novo--Trost2022 G
TMCC1     AU053503chr3:
129571594-129571594
TCintronicDe novo--Trost2022 G
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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