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Results for "HCN4"

Variant Events: 19

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.p1chr15:
73637396-73637396
GCintronicDe novo--Turner2016 G
HCN4     2-0002-005chr15:
73627581-73627581
CTintronicDe novo--Trost2022 G
Yuen2017 G
HCN4     5-0147-003chr15:
73673769-73673769
CAintergenicDe novo--Yuen2017 G
HCN4     13050.p1chr15:
73615400-73615400
CGexonicnonsynonymous SNVNM_005477c.G3034Cp.G1012R9.133-Zhou2022 GE
HCN4     AU049304chr15:
73623175-73623175
CTintronicDe novo--Yuen2017 G
HCN4     7-0100-004chr15:
73669554-73669556
CTGCintergenicDe novo--Yuen2017 G
HCN4     JASD_Fam0205chr15:
73614963-73614963
GCexonicDe novosynonymous SNVNM_005477c.C3471Gp.S1157S--Takata2018 E
HCN4     11352.p1chr15:
73614863-73614863
TCexonicDe novononsynonymous SNVNM_005477c.A3571Gp.R1191G11.57-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
Zhou2022 GE
HCN4     mAGRE2646chr15:
73614928-73614932
CCAAACexonicPaternalframeshift deletionNM_005477c.3502_3505delp.F1168fs-2.0E-4Cirnigliaro2023 G
HCN4     3-0456-000Bchr15:
73634599-73634599
CTintronicDe novo--Trost2022 G
Yuen2017 G
HCN4     iHART2648chr15:
73614928-73614932
CCAAACexonicPaternalframeshift deletionNM_005477c.3502_3505delp.F1168fs-2.0E-4Ruzzo2019 G
HCN4     AU060403chr15:
73701990-73701990
GCintergenicDe novo--Yuen2017 G
HCN4     iHART2646chr15:
73614928-73614932
CCAAACexonicPaternalframeshift deletionNM_005477c.3502_3505delp.F1168fs-2.0E-4Ruzzo2019 G
HCN4     iHART2647chr15:
73614928-73614932
CCAAACexonicPaternalframeshift deletionNM_005477c.3502_3505delp.F1168fs-2.0E-4Ruzzo2019 G
HCN4     SP0167614chr15:
73615220-73615220
GCexonicDe novononsynonymous SNVNM_005477c.C3214Gp.P1072A2.173-Trost2022 G
HCN4     mAGRE2648chr15:
73614928-73614932
CCAAACexonicPaternalframeshift deletionNM_005477c.3502_3505delp.F1168fs-2.0E-4Cirnigliaro2023 G
HCN4     3-0456-000chr15:
73634599-73634599
CTintronicDe novo--Yuen2016 G
Yuen2017 G
HCN4     REACH000582chr15:
73643359-73643359
CTintronicDe novo--Trost2022 G
HCN4     mAGRE2647chr15:
73614928-73614932
CCAAACexonicPaternalframeshift deletionNM_005477c.3502_3505delp.F1168fs-2.0E-4Cirnigliaro2023 G
Source Variant Information

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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 notesView
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