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Results for "LIN7A"

Variant Events: 27

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     mAGRE4995chr12:
81331479-81331479
GTexonicPaternalstopgainNM_004664c.C23Ap.S8X38.0-Cirnigliaro2023 G
LIN7A     mAGRE4994chr12:
81331479-81331479
GTexonicPaternalstopgainNM_004664c.C23Ap.S8X38.0-Cirnigliaro2023 G
LIN7A     mAGRE1340chr12:
81331479-81331479
GTexonicPaternalstopgainNM_004664c.C23Ap.S8X38.0-Cirnigliaro2023 G
LIN7A     mAGRE1339chr12:
81331479-81331479
GTexonicPaternalstopgainNM_004664c.C23Ap.S8X38.0-Cirnigliaro2023 G
LIN7A     SP0096402chr12:
81239534-81239534
TCexonicDe novononsynonymous SNVNM_004664c.A458Gp.D153G18.79-Fu2022 E
Trost2022 G
Zhou2022 GE
LIN7A     1-0278-003chr12:
81368067-81368067
AGintergenicDe novo--Yuen2016 G
LIN7A     1-0325-003chr12:
81415340-81415340
AGintergenicDe novo--Yuen2017 G
LIN7A     2-1335-003chr12:
81235294-81235294
CTintronicDe novo--Trost2022 G
Yuen2017 G
LIN7A     AU003403chr12:
81455041-81455041
GAintergenicDe novo--Yuen2017 G
LIN7A     2-1452-003chr12:
81425330-81425330
ATintergenicDe novo--Yuen2016 G
LIN7A     1-0683-003chr12:
81200860-81200860
TTGTTTGTTTGTTTGintronicDe novo--Yuen2017 G
LIN7A     2-1105-003chr12:
81362574-81362574
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
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     iHART1531chr12:
81205250-81205252
CATCexonicUnknownframeshift deletionNM_004664c.694_695delp.M232fs-1.0E-4Ruzzo2019 G
LIN7A     AU036203chr12:
81197678-81197678
GAintronicDe novo--Trost2022 G
Yuen2017 G
LIN7A     iHART1340chr12:
81331479-81331479
GTexonicPaternalstopgainNM_004664c.C23Ap.S8X38.0-Ruzzo2019 G
LIN7A     3-0490-000chr12:
81283781-81283781
GAintronicDe novo--Trost2022 G
LIN7A     SP0161058chr12:
81331413-81331413
CGintronicDe novo--Trost2022 G
LIN7A     1-1179-003chr12:
81207286-81207286
AGintronicDe novo--Trost2022 G
LIN7A     SP0117591chr12:
81239675-81239675
GCexonicDe novononsynonymous SNVNM_004664c.C317Gp.P106R16.9-Trost2022 G
LIN7A     1-0265-003chr12:
81312923-81312923
GAintronicDe novo--Trost2022 G
Yuen2017 G
LIN7A     4-0017-003chr12:
81194576-81194576
GGAintronicDe novo--Trost2022 G
LIN7A     mAGRE1531chr12:
81205250-81205252
CATCexonicUnknownframeshift deletionNM_004664c.694_695delp.M232fs-1.0E-4Cirnigliaro2023 G
LIN7A     1-0265-004chr12:
81312923-81312923
GAintronicDe 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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