Variant Results

or

or

Results for "HRH1"

Variant Events: 14

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

HRH1

3-0442-000

chr3:
11220847-11220847

G

A

intronic

De novo

-

-

Yuen2017 G

HRH1

AU000704

chr3:
11294341-11294341

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HRH1

1-0299-004

chr3:
11238057-11238061

CACAA

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HRH1

3-0180-000

chr3:
11256784-11256784

A

G

intronic

De novo

-

-

Trost2022 G

HRH1

1-0389-004

chr3:
11266111-11266113

CGG

TCA

intronic

De novo

-

-

Trost2022 G

HRH1

2-1238-003

chr3:
11227461-11227461

T

G

intronic

De novo

-

-

Trost2022 G

HRH1

13964.p1

chr3:
11220299-11220299

C

G

intronic

De novo

-

-

Turner2016 G

HRH1

2-0295-003

chr3:
11250788-11250788

G

TT

intronic

De novo

-

-

Trost2022 G

HRH1

1-1213-003

chr3:
11210890-11210890

T

G

intronic

De novo

-

-

Trost2022 G

HRH1

AU2328301

chr3:
11216550-11216550

G

A

intronic

De novo

-

-

Trost2022 G

HRH1

11111.p1

chr3:
11300939-11300939

G

A

exonic

De novo

synonymous SNV

NM_001098211
NM_001098212
NM_001098213
NM_000861

c.G216A
c.G216A
c.G216A
c.G216A

p.A72A
p.A72A
p.A72A
p.A72A

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

HRH1

AU2296301

chr3:
11209219-11209219

C

T

intronic

De novo

-

-

Trost2022 G

HRH1

111311

chr3:
11301352-11301352

A

G

exonic

nonsynonymous SNV

NM_001098211
NM_001098212
NM_001098213
NM_000861

c.A629G
c.A629G
c.A629G
c.A629G

p.Y210C
p.Y210C
p.Y210C
p.Y210C

22.2

Woodbury-Smith2022 E

HRH1

SSC02441

chr3:
11300939-11300939

G

A

exonic

De novo

synonymous SNV

NM_001098211
NM_001098212
NM_001098213
NM_000861

c.G216A
c.G216A
c.G216A
c.G216A

p.A72A
p.A72A
p.A72A
p.A72A

-

Fu2022 E
Lim2017 E
Trost2022 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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