Variant Results

or

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

1-0022-004

chr4:
69214089-69214089

A

G

intronic

De novo

-

Yuen2017 G

YTHDC1

M10105

chr4:
69188515-69188515

C

T

exonic

Unknown

nonsynonymous SNV

NM_133370
NM_001031732

c.G1499A
c.G1553A

p.R500Q
p.R518Q

18.31

8.241E-6

Stessman2017 T

YTHDC1

AU3862305

chr4:
69177026-69177058

CCATTATGGAGGAAATCATTATGGAGGAAATCA

CCATTATGGAGGAAATCA

UTR3

De novo

-

Yuen2017 G

YTHDC1

14402.p1

chr4:
69195952-69195953

AT

A

exonic

De novo

frameshift deletion

NM_133370
NM_001031732

c.1144delA
c.1198delA

p.I382fs
p.I400fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

YTHDC1

14521.p1

chr4:
69202896-69202911

CTCCTCCTCCTCCTCT

C

exonic

De novo

nonframeshift deletion

NM_001031732
NM_133370

c.717_731del
c.717_731del

p.239_244del
p.239_244del

-

5.0E-4

Iossifov2014 E
Kosmicki2017 E

YTHDC1

1-0253-005

chr4:
69205737-69205737

A

AT

intronic

De novo

-

Yuen2017 G

YTHDC1

2-0286-004

chr4:
69236291-69236291

G

A

intergenic

De novo

-

Yuen2017 G

YTHDC1

5-0030-003

chr4:
69265504-69265504

C

CT

intergenic

De novo

-

Yuen2017 G

YTHDC1

M17671

chr4:
69203634-69203635

TA

A

intronic

Paternal

-

Wang2016 T

YTHDC1

M20719

chr4:
69203634-69203635

TA

T

intronic

Maternal

-

0.2589

Wang2016 T

YTHDC1

1-0571-003

chr4:
69207112-69207112

T

C

intronic

De novo

-

Yuen2017 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 notes	View
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