Variant Results

or

Results for "TCF7L1"

Variant Events: 12

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

TCF7L1

1-0567-003

chr2:
85540484-85540484

C

CCCG

intergenic

De novo

-

Yuen2017 G

TCF7L1

2-1177-003

chr2:
85537491-85537491

A

T

UTR3

De novo

-

Yuen2016 G
Yuen2017 G

TCF7L1

1-0330-003

chr2:
85535911-85535911

G

GAGCC

intronic

De novo

-

Yuen2017 G

TCF7L1

2220_17mr

chr2:
85529697-85529697

T

TCCCCC

exonic

De novo

frameshift insertion

NM_031283

c.616_617insCCCCC

p.S206fs

-

Fu2022 E

TCF7L1

11066.p1

chr2:
85529727-85529727

G

T

exonic

De novo, Mosaic

nonsynonymous SNV

NM_031283

c.G646T

p.D216Y

23.0

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G

TCF7L1

AU3875301

chr2:
85518564-85518564

G

A

intronic

De novo

-

Yuen2017 G

TCF7L1

SSC02484

chr2:
85529727-85529727

G

T

exonic

De novo

nonsynonymous SNV

NM_031283

c.G646T

p.D216Y

23.0

-

Fu2022 E
Lim2017 E

TCF7L1

1-0925-003

chr2:
85459114-85459114

G

A

intronic

De novo

-

Yuen2017 G

TCF7L1

13660.p1

chr2:
85505152-85505152

G

C

intronic

De novo

-

Wilfert2021 G

TCF7L1

AU1640302

chr2:
85471243-85471243

G

A

intronic

De novo

-

Yuen2017 G

TCF7L1

TRE_1196

chr2:
85361148-85361148

C

A

exonic

De novo

nonsynonymous SNV

NM_031283

c.C259A

p.R87S

20.8

-

Fu2022 E

TCF7L1

1-0138-004

chr2:
85406794-85406794

C

T

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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