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Results for "LIN7A"

Variant Events: 16

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
LIN7A     AU4237301chr12:
81380742-81380742
GAintergenicDe novo--Yuen2017 G
LIN7A     5-0105-003chr12:
81467766-81467766
CGintergenicDe novo--Yuen2017 G
LIN7A     iHART1339chr12:
81331479-81331479
GTexonicPaternalstopgainNM_004664c.C23Ap.S8X38.0-Ruzzo2019 G
LIN7A     2-1406-003chr12:
81353724-81353724
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
LIN7A     1-0278-003chr12:
81368067-81368067
AGintergenicDe novo--Yuen2016 G
LIN7A     iHART1531chr12:
81205250-81205252
CATCexonicUnknownframeshift deletionNM_004664c.694_695delp.M232fs-1.0E-4Ruzzo2019 G
LIN7A     1-0325-003chr12:
81415340-81415340
AGintergenicDe novo--Yuen2017 G
LIN7A     AU036203chr12:
81197678-81197678
GAintronicDe novo--Yuen2017 G
LIN7A     iHART1340chr12:
81331479-81331479
GTexonicPaternalstopgainNM_004664c.C23Ap.S8X38.0-Ruzzo2019 G
LIN7A     2-1335-003chr12:
81235294-81235294
CTintronicDe novo--Yuen2017 G
LIN7A     AU003403chr12:
81455041-81455041
GAintergenicDe novo--Yuen2017 G
LIN7A     1-0265-003chr12:
81312923-81312923
GAintronicDe novo--Yuen2017 G
LIN7A     2-1452-003chr12:
81425330-81425330
ATintergenicDe novo--Yuen2016 G
LIN7A     1-0265-004chr12:
81312923-81312923
GAintronicDe novo--Yuen2017 G
LIN7A     1-0683-003chr12:
81200860-81200860
TTGTTTGTTTGTTTGintronicDe novo--Yuen2017 G
LIN7A     2-1105-003chr12:
81362574-81362574
GAintergenicDe novo--Yuen2016 G
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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