Variant Results

or

or

Results for "HSPBP1"

Variant Events: 15

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

HSPBP1

SP0035025

chr19:
55789166-55789166

G

A

exonic

De novo

nonsynonymous SNV

NM_001297600
NM_012267
NM_001130106

c.C397T
c.C259T
c.C259T

p.R133W
p.R87W
p.R87W

19.28

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

HSPBP1

2-0127-004

chr19:
55777768-55777768

T

TCACTATCAC

intronic

De novo

-

-

Yuen2017 G

HSPBP1

IGM1648157

chr19:
55789152-55789152

C

T

exonic

De novo

synonymous SNV

NM_001297600
NM_012267
NM_001130106

c.G411A
c.G273A
c.G273A

p.E137E
p.E91E
p.E91E

-

-

Fu2022 E

HSPBP1

2-0202-003

chr19:
55777756-55777756

T

TCTCTACCAC

intronic

De novo

-

-

Yuen2017 G

HSPBP1

Al-Mubarak2017:ASD-18

chr19:
55774040-55774040

T

G

exonic

Unknown

nonsynonymous SNV

NM_001297600
NM_012267
NM_001130106

c.A1154C
c.A1016C
c.A1016C

p.E385A
p.E339A
p.E339A

14.92

-

Al-Mubarak2017 E

HSPBP1

1-0051-005

chr19:
55777754-55777754

C

CACCATCACT

intronic

De novo

-

-

Yuen2017 G

HSPBP1

1-0141-003

chr19:
55777710-55777710

A

AC

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HSPBP1

1-0269-003

chr19:
55778039-55778039

A

ATCACCATTATC

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HSPBP1

PN400349

chr19:
55776729-55776729

G

A

exonic

Unknown

nonsynonymous SNV

NM_001297600
NM_012267
NM_001130106

c.C1060T
c.C922T
c.C922T

p.R354C
p.R308C
p.R308C

12.74

Leblond2019 E

HSPBP1

2-1505-004

chr19:
55777739-55777739

C

CACCATCATCACCATG

intronic

De novo

-

-

Yuen2017 G

HSPBP1

4-0064-003

chr19:
55778026-55778026

C

CATCATCACCATCACCATCACCATACCACCACCATCACT

intronic

De novo

-

-

Trost2022 G

HSPBP1

111309

chr19:
55791101-55791101

C

G

exonic

nonsynonymous SNV

NM_001297600

c.G14C

p.R5P

-

-

Woodbury-Smith2022 E

HSPBP1

1-0452-005

chr19:
55777885-55777885

C

T

intronic

De novo

-

-

Trost2022 G

HSPBP1

2-0285-003

chr19:
55777753-55777753

T

TCAC

intronic

De novo

-

-

Yuen2017 G

HSPBP1

7-0095-003

chr19:
55777753-55777753

T

TCACCATCACCAACATCAC

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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