Variant Results

or

Results for "HIP1"

Variant Events: 39

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

HIP1

2-1093-009

chr7:
75353007-75353007

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIP1

AU4159302

chr7:
75192591-75192591

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIP1

AU030104

chr7:
75387082-75387082

T

G

intergenic

De novo

-

Yuen2017 G

HIP1

1-0169-004

chr7:
75386841-75386841

G

GAGAA

intergenic

De novo

-

Yuen2017 G

HIP1

AU3617302

chr7:
75176968-75176968

T

G

intronic

De novo

-

Yuen2017 G

HIP1

2-1089-004

chr7:
75386841-75386841

G

GAGAA

intergenic

De novo

-

Yuen2017 G

HIP1

PN400543

chr7:
75171275-75171275

G

A

exonic

Unknown

nonsynonymous SNV

NM_001243198
NM_005338

c.C2762T
c.C2915T

p.T921M
p.T972M

25.5

6.0E-4

Leblond2019 E

HIP1

SP0023689

chr7:
75183409-75183409

C

T

intronic

-

Zhou2022 GE

HIP1

AU3779301

chr7:
75361616-75361616

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIP1

2-1350-004

chr7:
75292696-75292696

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIP1

V5T5W_01

chr7:
75219511-75219511

C

G

intronic

De novo

-

Trost2022 G

HIP1

1-0803-003

chr7:
75226472-75226472

C

T

intronic

De novo

-

Trost2022 G

HIP1

SP0064695

chr7:
75203208-75203208

T

G

splicing

De novo

splicing

26.5

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HIP1

7-0427-003

chr7:
75204585-75204585

G

A

intronic

De novo

-

Trost2022 G

HIP1

MSSNG00030-003

chr7:
75205552-75205552

G

T

intronic

De novo

-

Trost2022 G

HIP1

7-0427-003

chr7:
75190454-75190454

C

T

intronic

De novo

-

Trost2022 G

HIP1

12793.p1

chr7:
75229403-75229403

G

A

intronic

De novo

-

Turner2016 G

HIP1

2-1235-003

chr7:
75375865-75375865

C

A

intergenic

De novo

-

Yuen2017 G

HIP1

REACH000731

chr7:
75194043-75194043

T

C

intronic

De novo

-

Trost2022 G

HIP1

AU2320301

chr7:
75162569-75162569

G

T

downstream

De novo

-

Trost2022 G

HIP1

REACH000738

chr7:
75173671-75173671

T

C

intronic

De novo

-

Trost2022 G

HIP1

1-0169-003

chr7:
75386841-75386841

G

GAGAA

intergenic

De novo

-

Yuen2017 G

HIP1

7-0334-003

chr7:
75366722-75366722

C

T

intronic

De novo

-

Trost2022 G

HIP1

4-0024-003

chr7:
75366731-75366731

G

A

intronic

De novo

-

Trost2022 G

HIP1

12795.p1

chr7:
75389541-75389541

A

G

intergenic

De novo

-

Turner2016 G

HIP1

2-0007-003

chr7:
75342015-75342021

CTCATTT

TTTACTC

intronic

De novo

-

Trost2022 G

HIP1

AU030103

chr7:
75387082-75387082

T

G

intergenic

De novo

-

Yuen2017 G

HIP1

MSSNG00008-004

chr7:
75348550-75348550

T

C

intronic

De novo

-

Trost2022 G

HIP1

1-0295-003

chr7:
75230554-75230554

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIP1

REACH000431

chr7:
75291879-75291880

AG

A

intronic

De novo

-

Trost2022 G

HIP1

SP0100334

chr7:
75174424-75174424

T

G

exonic

De novo

synonymous SNV

NM_001243198
NM_005338

c.A2469C
c.A2622C

p.S823S
p.S874S

-

Fu2022 E

HIP1

1-1133-003

chr7:
75310243-75310243

A

G

intronic

De novo

-

Trost2022 G

HIP1

1034

chr7:
75228089-75228089

C

T

intronic

De novo

-

Trost2022 G

HIP1

MT_166.3

chr7:
75261193-75261193

C

A

intronic

De novo

-

Trost2022 G

HIP1

PN400542

chr7:
75171275-75171275

G

A

exonic

Unknown

nonsynonymous SNV

NM_001243198
NM_005338

c.C2762T
c.C2915T

p.T921M
p.T972M

25.5

6.0E-4

Leblond2019 E

HIP1

AU071204

chr7:
75245529-75245529

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIP1

Wang2023:3

chr7:
75174465-75174465

A

G

exonic

De novo

nonsynonymous SNV

NM_001243198
NM_005338

c.T2428C
c.T2581C

p.F810L
p.F861L

34.0

-

Wang2023 E

HIP1

AU3911301

chr7:
75208881-75208881

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIP1

13083.p1

chr7:
75177092-75177092

C

T

exonic

Mosaic

nonsynonymous SNV

NM_005338

c.G2426A

p.R809Q

28.0

1.647E-5

Krupp2017 E

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