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Results for "HIP1"

Variant Events: 19

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
HIP1     1-0169-003chr7:
75386841-75386841
GGAGAAintergenicDe novo--Yuen2017 G
HIP1     12795.p1chr7:
75389541-75389541
AGintergenicDe novo--Turner2016 G
HIP1     2-1093-009chr7:
75353007-75353007
CTintronicDe novo--Yuen2017 G
HIP1     AU030103chr7:
75387082-75387082
TGintergenicDe novo--Yuen2017 G
HIP1     1-0295-003chr7:
75230554-75230554
CTintronicDe novo--Yuen2017 G
HIP1     AU4159302chr7:
75192591-75192591
GTintronicDe novo--Yuen2017 G
HIP1     AU030104chr7:
75387082-75387082
TGintergenicDe novo--Yuen2017 G
HIP1     1-0169-004chr7:
75386841-75386841
GGAGAAintergenicDe novo--Yuen2017 G
HIP1     AU3617302chr7:
75176968-75176968
TGintronicDe novo--Yuen2017 G
HIP1     2-1089-004chr7:
75386841-75386841
GGAGAAintergenicDe novo--Yuen2017 G
HIP1     PN400543chr7:
75171275-75171275
GAexonicUnknownnonsynonymous SNVNM_001243198
NM_005338
c.C2762T
c.C2915T
p.T921M
p.T972M
25.56.0E-4Leblond2019 E
HIP1     PN400542chr7:
75171275-75171275
GAexonicUnknownnonsynonymous SNVNM_001243198
NM_005338
c.C2762T
c.C2915T
p.T921M
p.T972M
25.56.0E-4Leblond2019 E
HIP1     AU071204chr7:
75245529-75245529
CTintronicDe novo--Yuen2017 G
HIP1     AU3779301chr7:
75361616-75361616
CTintronicDe novo--Yuen2017 G
HIP1     2-1350-004chr7:
75292696-75292696
CTintronicDe novo--Yuen2017 G
HIP1     12793.p1chr7:
75229403-75229403
GAintronicDe novo--Turner2016 G
HIP1     2-1235-003chr7:
75375865-75375865
CAintergenicDe novo--Yuen2017 G
HIP1     AU3911301chr7:
75208881-75208881
TCintronicDe novo--Yuen2017 G
HIP1     13083.p1chr7:
75177092-75177092
CTexonicMosaicnonsynonymous SNVNM_005338c.G2426Ap.R809Q28.01.647E-5Krupp2017 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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