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Results for "KPNA7"

Variant Events: 40

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
KPNA7     2-1526-004chr7:
98817351-98817351
GTintergenicDe novo--Yuen2017 G
KPNA7     1-0332-003chr7:
98822092-98822092
TGintergenicDe novo--Yuen2017 G
KPNA7     1-0402-004chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     1-0144-005chr7:
98817351-98817351
GTintergenicDe novo--Yuen2017 G
KPNA7     7-0174-003chr7:
98804050-98804050
AGintronicDe novo--Yuen2017 G
KPNA7     1-0683-003chr7:
98822092-98822092
TGintergenicDe novo--Yuen2017 G
KPNA7     2-1415-004chr7:
98822092-98822092
TGintergenicDe novo--Yuen2017 G
KPNA7     2-1170-003chr7:
98822092-98822092
TGintergenicDe novo--Yuen2017 G
KPNA7     14420.p1chr7:
98786157-98786157
GAexonicDe novosynonymous SNVNM_001145715c.C666Tp.T222T--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
KPNA7     2-1170-003chr7:
98817351-98817351
GTintergenicDe novo--Yuen2017 G
KPNA7     1-0683-004chr7:
98822092-98822092
TGintergenicDe novo--Yuen2017 G
KPNA7     1-0206-003chr7:
98817351-98817351
GTintergenicDe novo--Yuen2017 G
KPNA7     2-1398-004chr7:
98822109-98822109
TCintergenicDe novo--Yuen2017 G
KPNA7     AU3695303chr7:
98801314-98801314
TCintronicDe novo--Yuen2017 G
KPNA7     2-0307-004chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     1-0197-004chr7:
98817351-98817351
GTintergenicDe novo--Yuen2017 G
KPNA7     5-0017-004chr7:
98822109-98822109
TCintergenicDe novo--Yuen2017 G
KPNA7     1-0150-004chr7:
98817351-98817351
GTintergenicDe novo--Yuen2017 G
KPNA7     1-0191-004chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     1-0153-005chr7:
98822092-98822092
TGintergenicDe novo--Yuen2017 G
KPNA7     2-1644-003chr7:
98822109-98822109
TCintergenicDe novo--Yuen2017 G
KPNA7     5-0050-003chr7:
98822109-98822109
TCintergenicDe novo--Yuen2017 G
KPNA7     AU000704chr7:
98830397-98830397
GAintergenicDe novo--Yuen2017 G
KPNA7     1-0305-004chr7:
98822092-98822092
TGintergenicDe novo--Yuen2017 G
KPNA7     2-1456-004chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     AU3761301chr7:
98790480-98790480
TCintronicDe novo--Yuen2017 G
KPNA7     2-1456-004chr7:
98817351-98817351
GTintergenicDe novo--Yuen2017 G
KPNA7     2-0215-003chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     2-0300-004chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     1-0296-003chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     AU070007chr7:
98802775-98802775
GAintronicDe novo--Yuen2017 G
KPNA7     1-0652-003chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     08C76119chr7:
98792823-98792823
GAexonicDe novosynonymous SNVNM_001145715c.C423Tp.I141I-4.804E-5Satterstrom2020 E
KPNA7     1-0414-005chr7:
98817351-98817351
GTintergenicDe novo--Yuen2017 G
KPNA7     1-0357-003chr7:
98822092-98822092
TGintergenicDe novo--Yuen2017 G
KPNA7     5-0025-004chr7:
98817393-98817393
GAintergenicDe novo--Yuen2017 G
KPNA7     AU2495302chr7:
98816941-98816941
CCTintergenicDe novo--Yuen2017 G
KPNA7     7-0133-003chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     5-0018-003chr7:
98822096-98822096
AGintergenicDe novo--Yuen2017 G
KPNA7     7-0024-005chr7:
98845155-98845155
CTintergenicDe 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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