Variant Results

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Results for "HCN4"

Variant Events: 13

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

HCN4

14496.p1

chr15:
73637396-73637396

G

C

intronic

De novo

-

-

Turner2016 G

HCN4

2-0002-005

chr15:
73627581-73627581

C

T

intronic

De novo

-

-

Yuen2017 G

HCN4

5-0147-003

chr15:
73673769-73673769

C

A

intergenic

De novo

-

-

Yuen2017 G

HCN4

AU049304

chr15:
73623175-73623175

C

T

intronic

De novo

-

-

Yuen2017 G

HCN4

7-0100-004

chr15:
73669554-73669556

CTG

C

intergenic

De novo

-

-

Yuen2017 G

HCN4

JASD_Fam0205

chr15:
73614963-73614963

G

C

exonic

De novo

synonymous SNV

NM_005477

c.C3471G

p.S1157S

-

-

Takata2018 E

HCN4

11352.p1

chr15:
73614863-73614863

T

C

exonic

De novo

nonsynonymous SNV

NM_005477

c.A3571G

p.R1191G

11.57

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G

HCN4

3-0456-000B

chr15:
73634599-73634599

C

T

intronic

De novo

-

-

Yuen2017 G

HCN4

iHART2648

chr15:
73614928-73614932

CCAAA

C

exonic

Paternal

frameshift deletion

NM_005477

c.3502_3505del

p.F1168fs

-

Ruzzo2019 G

HCN4

AU060403

chr15:
73701990-73701990

G

C

intergenic

De novo

-

-

Yuen2017 G

HCN4

iHART2646

chr15:
73614928-73614932

CCAAA

C

exonic

Paternal

frameshift deletion

NM_005477

c.3502_3505del

p.F1168fs

-

Ruzzo2019 G

HCN4

iHART2647

chr15:
73614928-73614932

CCAAA

C

exonic

Paternal

frameshift deletion

NM_005477

c.3502_3505del

p.F1168fs

-

Ruzzo2019 G

HCN4

3-0456-000

chr15:
73634599-73634599

C

T

intronic

De novo

-

-

Yuen2016 G
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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