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Results for "TTC21A"

Variant Events: 5

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
TTC21A     72-0745chr3:
39171613-39171613
CAexonicInheritednonsynonymous SNVNM_001105513
NM_145755
c.C2056A
c.C2200A
p.L686M
p.L734M
16.468.446E-6Patowary2019 E
TTC21A     iHART2291chr3:
39159670-39159670
TCsplicingPaternalsplicing6.14.145E-5Ruzzo2019 G
TTC21A     Kim2020:B16chr3:
39154020-39154020
CAexonicDe novostopgainNM_145755c.C507Ap.Y169X20.8-Kim2020 E
TTC21A     12162.p1chr3:
39170415-39170415
GCexonicDe novononsynonymous SNVNM_001105513
NM_145755
c.G1765C
c.G1909C
p.G589R
p.G637R
28.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TTC21A     SSC06038chr3:
39170415-39170415
GCexonicDe novononsynonymous SNVNM_001105513
NM_145755
c.G1765C
c.G1909C
p.G589R
p.G637R
28.0-Lim2017 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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