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Results for "KCNH8"

Variant Events: 82

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
KCNH8     7-0023-003chr3:
19900738-19900738
TCintergenicDe novo--Yuen2017 G
KCNH8     2-1329-003chr3:
19308930-19308930
GTintronicDe novo--Yuen2016 G
Yuen2017 G
KCNH8     11522.p1chr3:
19554533-19554533
GAexonicDe novosynonymous SNVNM_144633c.G2151Ap.E717E--Krumm2015 E
Satterstrom2020 E
KCNH8     2-1567-004chr3:
19035661-19035661
TCintergenicDe novo--Yuen2017 G
KCNH8     AU005214chr3:
18872816-18872816
AGintergenicDe novo--Yuen2017 G
KCNH8     2-1173-003chr3:
19056077-19056077
CGintergenicDe novo--Yuen2017 G
KCNH8     2-0158-003chr3:
19274118-19274118
GTintronicDe novo--Yuen2017 G
KCNH8     AU3636301chr3:
19609227-19609227
GAintergenicDe novo--Yuen2017 G
KCNH8     2-1160-003chr3:
19879373-19879373
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNH8     7-0191-003chr3:
19070844-19070844
AGintergenicDe novo--Yuen2017 G
KCNH8     1-0551-003chr3:
19082852-19082852
GAintergenicDe novo--Yuen2017 G
KCNH8     A24chr3:
19790094-19790094
CTintergenicDe novo--Wu2018 G
KCNH8     2-1645-003chr3:
19793697-19793697
GTintergenicDe novo--Yuen2017 G
KCNH8     AU4233301chr3:
19477564-19477564
CTintronicDe novo--Yuen2017 G
KCNH8     1-0067-005chr3:
18984706-18984708
TGATintergenicDe novo--Yuen2017 G
KCNH8     2-1581-003chr3:
18740224-18740224
TCintergenicDe novo--Yuen2017 G
KCNH8     AU1952305chr3:
19567375-19567375
TCintronicDe novo--Yuen2017 G
KCNH8     1-0936-003chr3:
19798624-19798624
CTintergenicDe novo--Yuen2017 G
KCNH8     AU4067303chr3:
18616053-18616053
CTintergenicDe novo--Yuen2017 G
KCNH8     2-1721-003chr3:
18749334-18749334
GAintergenicDe novo--Yuen2017 G
KCNH8     AU054304chr3:
18669927-18669938
AAGAGAGAGAGAAAGAGAGAGAGAGAintergenicDe novo--Yuen2017 G
KCNH8     2-1378-003chr3:
19892807-19892807
GCintergenicDe novo--Yuen2017 G
KCNH8     1-0150-003chr3:
19913460-19913460
CTintergenicDe novo--Yuen2017 G
KCNH8     2-0297-003chr3:
19407535-19407535
AGintronicDe novo--Yuen2017 G
KCNH8     AU4260303chr3:
19416458-19416458
GAintronicDe novo--Yuen2017 G
KCNH8     2-1436-003chr3:
19464887-19464887
TCintronicDe novo--Yuen2017 G
KCNH8     2-1696-003chr3:
19477816-19477816
TAintronicDe novo--Yuen2017 G
KCNH8     13171.p1chr3:
19586160-19586160
TAintergenicDe novo--Turner2016 G
KCNH8     AU079104chr3:
19089565-19089570
CATTTACAintergenicDe novo--Yuen2017 G
KCNH8     11572.p1chr3:
19902068-19902068
AGintergenicDe novo--Turner2016 G
KCNH8     2-1702-004chr3:
19189629-19189629
CTupstreamDe novo--Yuen2017 G
KCNH8     13711.p1chr3:
19491606-19491606
CTexonicDe novononsynonymous SNVNM_144633c.C1384Tp.H462Y24.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
KCNH8     13649.p1chr3:
18726654-18726654
CTintergenicDe novo--Turner2016 G
KCNH8     1-0555-003chr3:
19230493-19230493
TCintronicDe novo--Yuen2017 G
KCNH8     AU031203chr3:
19796918-19796918
CAintergenicDe novo--Yuen2017 G
KCNH8     A14chr3:
19294145-19294145
GTintronicDe novo--Wu2018 G
KCNH8     7-0082-003chr3:
18818581-18818581
CTintergenicDe novo--Yuen2017 G
KCNH8     7-0251-003chr3:
18662438-18662438
CTintergenicDe novo--Yuen2017 G
KCNH8     Lim2017:68607chr3:
19554533-19554533
GAexonicDe novosynonymous SNVNM_144633c.G2151Ap.E717E--Lim2017 E
KCNH8     Lim2017:70425chr3:
19491606-19491606
CTexonicDe novononsynonymous SNVNM_144633c.C1384Tp.H462Y24.6-Lim2017 E
KCNH8     AU050910chr3:
19771461-19771461
GCintergenicDe novo--Yuen2017 G
KCNH8     1-0051-005chr3:
19691690-19691690
TGintergenicDe novo--Yuen2017 G
KCNH8     AU3900302chr3:
18798948-18798948
TCintergenicDe novo--Yuen2017 G
KCNH8     AU1795303chr3:
19141358-19141358
CAintergenicDe novo--Yuen2017 G
KCNH8     AU3371302chr3:
19856242-19856242
TCintergenicDe novo--Yuen2017 G
KCNH8     AU3900302chr3:
19851102-19851102
CGintergenicDe novo--Yuen2017 G
KCNH8     1-0225-003chr3:
18586338-18586338
AGintergenicDe novo--Yuen2017 G
KCNH8     1-0885-003chr3:
19855649-19855649
CTintergenicDe novo--Yuen2017 G
KCNH8     AU3765302chr3:
19748180-19748180
GAintergenicDe novo--Yuen2017 G
KCNH8     2-1735-003chr3:
18616473-18616473
GTintergenicDe novo--Yuen2017 G
KCNH8     2-0242-003chr3:
19030598-19030598
GAintergenicDe novo--Yuen2017 G
KCNH8     2-1317-003chr3:
19002096-19002096
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNH8     2-1718-003chr3:
19473826-19473826
CTintronicDe novo--Yuen2017 G
KCNH8     7-0250-003chr3:
19757256-19757256
CTintergenicDe novo--Yuen2017 G
KCNH8     7-0148-003chr3:
19905498-19905498
GAintergenicDe novo--Yuen2017 G
KCNH8     AU4235303chr3:
19882594-19882594
GAintergenicDe novo--Yuen2017 G
KCNH8     1-0274-004chr3:
19091028-19091028
AGintergenicDe novo--Yuen2017 G
KCNH8     1-0107-003chr3:
19523476-19523476
AGintronicDe novo--Yuen2016 G
Yuen2017 G
KCNH8     AU3885305chr3:
18768992-18768992
AGintergenicDe novo--Yuen2017 G
KCNH8     2-1511-003chr3:
19386887-19386887
TCintronicDe novo--Yuen2017 G
KCNH8     AU4306302chr3:
18848036-18848036
TGintergenicDe novo--Yuen2017 G
KCNH8     2-0307-003chr3:
18996289-18996289
TCintergenicDe novo--Yuen2017 G
KCNH8     2-0305-003chr3:
19675764-19675764
TCintergenicDe novo--Yuen2017 G
KCNH8     2-0197-004chr3:
18812522-18812522
GGAintergenicDe novo--Yuen2017 G
KCNH8     3-0661-000chr3:
18871352-18871352
GAintergenicDe novo--Yuen2017 G
KCNH8     1-0161-003chr3:
19268157-19268157
AAAAGGCAGCTGTTintronicDe novo--Yuen2017 G
KCNH8     iHART1896chr3:
19575144-19575144
GAexonicMaternalstopgainNM_144633c.G2877Ap.W959X39.08.239E-6Ruzzo2019 G
KCNH8     1-0019-004chr3:
19035661-19035661
TCintergenicDe novo--Yuen2017 G
KCNH8     AU043804chr3:
18871553-18871553
CTintergenicDe novo--Yuen2017 G
KCNH8     1-0274-003chr3:
19091028-19091028
AGintergenicDe novo--Yuen2017 G
KCNH8     1-0196-005chr3:
18935189-18935189
GAintergenicDe novo--Yuen2017 G
KCNH8     2-1722-003chr3:
18742182-18742182
CAintergenicDe novo--Yuen2017 G
KCNH8     AU2711303chr3:
18757325-18757325
GAintergenicDe novo--Yuen2017 G
KCNH8     1-0375-003chr3:
19328825-19328825
CTintronicDe novo--Yuen2016 G
Yuen2017 G
KCNH8     1-0708-003chr3:
19544655-19544655
AGintronicDe novo--Yuen2017 G
KCNH8     2-1117-003chr3:
19811903-19811904
CTCintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNH8     5-0017-004chr3:
19035452-19035452
TTGGCCGGGCGCGGintergenicDe novo--Yuen2017 G
KCNH8     2-0242-005chr3:
18645406-18645406
ACintergenicDe novo--Yuen2017 G
KCNH8     1-0898-003chr3:
19308936-19308936
CTintronicDe novo--Yuen2017 G
KCNH8     1-0898-003chr3:
19307506-19307506
CTintronicDe novo--Yuen2017 G
KCNH8     AU003406chr3:
19145548-19145548
TCintergenicDe novo--Yuen2017 G
KCNH8     AU056005chr3:
18727938-18727938
GAintergenicDe novo--Yuen2017 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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