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Results for "KLHDC4"

Variant Events: 22

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
KLHDC4     1-0935-003chr16:
87775762-87775762
TCintronicDe novo--Yuen2017 G
KLHDC4     mAGRE1388chr16:
87743018-87743018
TTGexonicMaternalframeshift insertionNM_001184854
NM_001184856
NM_017566
c.1128dupC
c.1206dupC
c.1299dupC
p.N377fs
p.N403fs
p.N434fs
-8.328E-6Cirnigliaro2023 G
KLHDC4     13329.p1chr16:
87754122-87754122
CTintronicDe novo--Krumm2015 E
KLHDC4     AC02-1140-01chr16:
87795688-87795688
ACintronicDe novo-4.0E-4Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
KLHDC4     12228.p1chr16:
87754428-87754428
ACintronicDe novo--Krumm2015 E
KLHDC4     iHART1388chr16:
87743018-87743018
TTGexonicMaternalframeshift insertionNM_001184854
NM_001184856
NM_017566
c.1128dupC
c.1206dupC
c.1299dupC
p.N377fs
p.N403fs
p.N434fs
-8.328E-6Ruzzo2019 G
KLHDC4     SMHC01859s000chr16:
87760382-87760383
AGAexonicDe novoframeshift deletionNM_001184854
NM_001184856
NM_017566
c.576delC
c.654delC
c.747delC
p.G192fs
p.G218fs
p.G249fs
--Yuan2023 E
KLHDC4     3-0829-000chr16:
87755554-87755554
CTintronicDe novo--Trost2022 G
KLHDC4     REACH000709chr16:
87758620-87758620
GCintronicDe novo--Trost2022 G
KLHDC4     5-1006-003chr16:
87740569-87740569
AAGdownstreamDe novo--Trost2022 G
KLHDC4     AU4496301chr16:
87750655-87750655
GAintronicDe novo--Trost2022 G
Yuen2017 G
KLHDC4     MSSNG00106-003chr16:
87751780-87751780
CTintronicDe novo--Trost2022 G
KLHDC4     2-1505-003chr16:
87753953-87753953
AAACACACintronicDe novo--Trost2022 G
Yuen2017 G
KLHDC4     1-0208-003chr16:
87776440-87776440
CTintronicDe novo--Trost2022 G
Yuen2017 G
KLHDC4     AU4228301chr16:
87795292-87795292
CTintronicDe novo--Trost2022 G
Yuen2017 G
KLHDC4     Wang2023:517chr16:
87795586-87795586
CAexonicDe novononsynonymous SNVNM_001184856
NM_017566
c.G160T
c.G160T
p.V54L
p.V54L
5.805-Wang2023 E
KLHDC4     3-0787-000chr16:
87790403-87790403
GCintronicDe novo--Trost2022 G
KLHDC4     MSSNG00054-005chr16:
87782085-87782085
CTintronicDe novo--Trost2022 G
KLHDC4     MSSNG00171-003chr16:
87786372-87786372
AGintronicDe novo--Trost2022 G
KLHDC4     3-0175-000chr16:
87763254-87763254
GAintronicDe novo--Trost2022 G
KLHDC4     AU3906301chr16:
87766347-87766347
CGintronicDe novo--Yuen2017 G
KLHDC4     5-5217-003chr16:
87767945-87767945
GAintronicDe novo--Trost2022 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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