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Results for "KLHDC10"

Variant Events: 6

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
KLHDC10     1-0010-003chr7:
129758336-129758339
CAATCintronicDe novo--Yuen2017 G
KLHDC10     11838.p1chr7:
129767258-129767258
CTexonicDe novostopgainNM_014997c.C946Tp.R316X37.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
KLHDC10     1-0010-005chr7:
129758336-129758339
CAATCintronicDe novo--Yuen2017 G
KLHDC10     JASD_Fam0221chr7:
129736794-129736794
GAexonicDe novononsynonymous SNVNM_014997c.G200Ap.R67K18.07-Takata2018 E
KLHDC10     AU4228302chr7:
129745676-129745676
CAintronicDe novo--Yuen2017 G
KLHDC10     SSC07419chr7:
129767258-129767258
CTexonicDe novostopgainNM_014997c.C946Tp.R316X37.0-Lim2017 E
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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