Variant Results

or

Results for "KCNH6"

Variant Events: 11

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

KCNH6

SP0053576

chr17:
61612977-61612977

G

A

intronic

De novo

-

Fu2022 E

KCNH6

iHART2726

chr17:
61620995-61620999

GTTTC

G

exonic

Maternal

frameshift deletion

NM_001278919
NM_001278920
NM_030779
NM_173092

c.2208_2211del
c.1839_1842del
c.2208_2211del
c.2049_2052del

p.G736fs
p.G613fs
p.G736fs
p.G683fs

-

4.15E-5

Ruzzo2019 G

KCNH6

SP0007844

chr17:
61616077-61616077

G

A

intronic

De novo

-

Fu2022 E

KCNH6

3-0626-000A

chr17:
61623772-61623772

G

A

UTR3

De novo

-

Trost2022 G

KCNH6

1-0450-003

chr17:
61617369-61617369

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH6

111290

chr17:
61615606-61615606

A

C

exonic

nonsynonymous SNV

NM_001278919
NM_001278920
NM_030779
NM_173092

c.A1682C
c.A1313C
c.A1682C
c.A1523C

p.N561T
p.N438T
p.N561T
p.N508T

20.4

1.653E-5

Woodbury-Smith2022 E

KCNH6

mAGRE2726

chr17:
61620995-61620999

GTTTC

G

exonic

Maternal

frameshift deletion

NM_001278919
NM_001278920
NM_030779
NM_173092

c.2208_2211del
c.1839_1842del
c.2208_2211del
c.2049_2052del

p.G736fs
p.G613fs
p.G736fs
p.G683fs

-

4.15E-5

Cirnigliaro2023 G

KCNH6

A1380B

chr17:
61623053-61623053

G

A

exonic

De novo

synonymous SNV

NM_001278919
NM_001278920
NM_030779
NM_173092

c.G2667A
c.G2298A
c.G2775A
c.G2508A

p.T889T
p.T766T
p.T925T
p.T836T

-

4.944E-5

Fu2022 E

KCNH6

mAGRE5631

chr17:
61611245-61611245

A

G

splicing

Paternal

splicing

10.7

3.0E-4

Cirnigliaro2023 G

KCNH6

mAGRE5630

chr17:
61611245-61611245

A

G

splicing

Paternal

splicing

10.7

3.0E-4

Cirnigliaro2023 G

KCNH6

EGAN00001101026

chr17:
61615630-61615630

G

C

intronic

De novo

-

Fu2022 E

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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