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Results for "YTHDC1"

Variant Events: 11

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
YTHDC1     1-0022-004chr4:
69214089-69214089
AGintronicDe novo--Yuen2017 G
YTHDC1     M10105chr4:
69188515-69188515
CTexonicUnknownnonsynonymous SNVNM_133370
NM_001031732
c.G1499A
c.G1553A
p.R500Q
p.R518Q
18.318.241E-6Stessman2017 T
YTHDC1     AU3862305chr4:
69177026-69177058
CCATTATGGAGGAAATCATTATGGAGGAAATCACCATTATGGAGGAAATCAUTR3De novo--Yuen2017 G
YTHDC1     14402.p1chr4:
69195952-69195953
ATAexonicDe novoframeshift deletionNM_133370
NM_001031732
c.1144delA
c.1198delA
p.I382fs
p.I400fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
YTHDC1     14521.p1chr4:
69202896-69202911
CTCCTCCTCCTCCTCTCexonicDe novononframeshift deletionNM_001031732
NM_133370
c.717_731del
c.717_731del
p.239_244del
p.239_244del
-5.0E-4Iossifov2014 E
Kosmicki2017 E
YTHDC1     1-0253-005chr4:
69205737-69205737
AATintronicDe novo--Yuen2017 G
YTHDC1     2-0286-004chr4:
69236291-69236291
GAintergenicDe novo--Yuen2017 G
YTHDC1     5-0030-003chr4:
69265504-69265504
CCTintergenicDe novo--Yuen2017 G
YTHDC1     M17671chr4:
69203634-69203635
TAAintronicPaternal--Wang2016 T
YTHDC1     M20719chr4:
69203634-69203635
TATintronicMaternal-0.2589Wang2016 T
YTHDC1     1-0571-003chr4:
69207112-69207112
TCintronicDe 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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