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Results for "KRT26"

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
KRT26     1-0180-004chr17:
38931601-38931601
AGintergenicDe novo--Yuen2017 G
KRT26     AU2485305chr17:
38923776-38923776
CAintronicDe novo--Yuen2017 G
KRT26     Li2017:20967chr17:
38928089-38928089
GAexonicUnknownnonsynonymous SNVNM_181539c.C277Tp.R93C29.14.12E-5Li2017 T
KRT26     A23chr17:
38928082-38928096
GCCAGGCGGTCGTTGGexonicDe novoframeshift deletionNM_181539c.270_283delp.L90fs--Wu2018 G
KRT26     Li2017:23736chr17:
38925258-38925258
CAexonicUnknownstopgainNM_181539c.G1060Tp.E354X14.43-Li2017 T
KRT26     A7chr17:
38928082-38928096
GCCAGGCGGTCGTTGGexonicDe novoframeshift deletionNM_181539c.270_283delp.L90fs--Wu2018 G
Source Variant Information

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Source:

Paper alias:

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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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