Variant Results

or

Results for "HNF1B"

Variant Events: 31

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

HNF1B

A12

chr17:
36184346-36184346

C

G

intergenic

De novo

-

Wu2018 G

HNF1B

ASC_CA_59_A

chr17:
36093838-36093838

T

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

HNF1B

1-0640-003

chr17:
36156382-36156389

GCCACCAC

GCCAC

intergenic

De novo

-

Yuen2017 G

HNF1B

21799-35302

chr17:
36070588-36070588

T

TGGGGG

exonic

frameshift insertion

NM_000458
NM_001165923
NM_001304286

c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC

p.S377fs
p.S351fs
p.S351fs

-

Callaghan2019 G

HNF1B

21236-33440

chr17:
36070588-36070588

T

TGGGGG

exonic

frameshift insertion

NM_000458
NM_001165923
NM_001304286

c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC

p.S377fs
p.S351fs
p.S351fs

-

Callaghan2019 G

HNF1B

DEASD_1012_001

chr17:
36104918-36104918

T

G

UTR5

De novo

-

Satterstrom2020 E
Trost2022 G

HNF1B

SP0032709

chr17:
36099392-36099392

C

T

intronic

De novo

-

8.241E-6

Fu2022 E

HNF1B

21801-35317

chr17:
36070588-36070588

T

TGGGGG

exonic

frameshift insertion

NM_000458
NM_001165923
NM_001304286

c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC

p.S377fs
p.S351fs
p.S351fs

-

Callaghan2019 G

HNF1B

1565-22223

chr17:
36070588-36070588

T

TGGGGG

exonic

frameshift insertion

NM_000458
NM_001165923
NM_001304286

c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC

p.S377fs
p.S351fs
p.S351fs

-

Callaghan2019 G

HNF1B

1034-19683

chr17:
36070588-36070588

T

TGGGGG

exonic

frameshift insertion

NM_000458
NM_001165923
NM_001304286

c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC

p.S377fs
p.S351fs
p.S351fs

-

Callaghan2019 G

HNF1B

1999-24135

chr17:
36070588-36070588

T

TGGGGG

exonic

frameshift insertion

NM_000458
NM_001165923
NM_001304286

c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC

p.S377fs
p.S351fs
p.S351fs

-

Callaghan2019 G

HNF1B

G01-GEA-311-HI

chr17:
36104918-36104918

T

G

UTR5

De novo

-

Satterstrom2020 E
Trost2022 G

HNF1B

1972-24038

chr17:
36070588-36070588

T

TGGGGG

exonic

frameshift insertion

NM_000458
NM_001165923
NM_001304286

c.1128_1129insCCCCC
c.1050_1051insCCCCC
c.1050_1051insCCCCC

p.S377fs
p.S351fs
p.S351fs

-

Callaghan2019 G

HNF1B

MT_160.3

chr17:
36064096-36064099

AAAC

A

intronic

De novo

-

Trost2022 G

HNF1B

1-0652-003

chr17:
36168765-36168765

T

C

intergenic

De novo

-

Yuen2017 G

HNF1B

7-0094-003

chr17:
36071860-36071860

C

A

intronic

De novo

-

Trost2022 G

HNF1B

MSSNG00044-004

chr17:
36099937-36099941

TTTAA

T

intronic

De novo

-

Trost2022 G

HNF1B

2-1497-003

chr17:
36084359-36084359

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HNF1B

3-0143-000

chr17:
36105978-36105978

G

A

upstream

De novo

-

Trost2022 G

HNF1B

2-1359-004

chr17:
36090018-36090020

AAA

GTC

intronic

De novo

-

Trost2022 G

HNF1B

1-0273-004

chr17:
36090023-36090027

AACGA

TCCAG

intronic

De novo

-

Trost2022 G

HNF1B

2-1359-004

chr17:
36090007-36090014

ACAGGATG

CTGCTC

intronic

De novo

-

Trost2022 G

HNF1B

2-1442-003

chr17:
36123071-36123084

GATATATATATATA

GATATATATATA

intergenic

De novo

-

Yuen2017 G

HNF1B

1-0273-004

chr17:
36090018-36090020

AAA

GTC

intronic

De novo

-

Trost2022 G

HNF1B

2-1567-003

chr17:
36089987-36089987

T

CCTG

intronic

De novo

-

Trost2022 G

HNF1B

1-0273-004

chr17:
36090007-36090014

ACAGGATG

CTGCTC

intronic

De novo

-

Trost2022 G

HNF1B

2-1442-003

chr17:
36108273-36108273

G

A

intergenic

De novo

-

Yuen2016 G

HNF1B

5-0015-003

chr17:
36060593-36060593

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HNF1B

AU074503

chr17:
36107505-36107505

T

C

intergenic

De novo

-

Yuen2017 G

HNF1B

1-0534-006

chr17:
36103386-36103386

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HNF1B

AU074503

chr17:
36156382-36156389

GCCACCAC

GCCAC

intergenic

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
	More