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Results for "UNC13C"

Variant Events: 94

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
UNC13C     AU3811301chr15:
55099991-55099991
CTintergenicDe novo--Yuen2017 G
UNC13C     MSSNG00217-003chr15:
54343359-54343359
TCintronicDe novo--Trost2022 G
UNC13C     MT_35.3chr15:
54356342-54356342
CGintronicDe novo--Trost2022 G
UNC13C     MSSNG00355-003chr15:
54321099-54321099
CTintronicDe novo--Trost2022 G
UNC13C     4-0010-003chr15:
54342328-54342328
GAintronicDe novo--Trost2022 G
UNC13C     SP0030741chr15:
54542556-54542556
TGexonicnonsynonymous SNVNM_001080534c.T3362Gp.I1121S23.6-Zhou2022 GE
UNC13C     1-0120-003chr15:
54420898-54420898
GAintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     SP0085399chr15:
54914537-54914537
AGexonicnonsynonymous SNVNM_001080534c.A6119Gp.K2040R14.47-Zhou2022 GE
UNC13C     MSSNG00136-003chr15:
54556398-54556398
GAexonicDe novononsynonymous SNVNM_001080534c.G3481Ap.E1161K32.01.0E-4Trost2022 G
Zhou2022 GE
UNC13C     1-1129-003chr15:
54420919-54420919
GAintronicDe novo--Trost2022 G
UNC13C     MSSNG00108-003chr15:
54463923-54463923
CTintronicDe novo--Trost2022 G
UNC13C     2-0242-003chr15:
55398555-55398555
CAintergenicDe novo--Yuen2017 G
UNC13C     2-1800-003chr15:
54394199-54394199
ACintronicDe novo--Trost2022 G
UNC13C     1-0126-004chr15:
55277590-55277590
TCintergenicDe novo--Yuen2017 G
UNC13C     MSSNG00407-003chr15:
54400035-54400035
TCintronicDe novo--Trost2022 G
UNC13C     AU072505chr15:
54919817-54919817
CTUTR3De novo--Trost2022 G
Yuen2017 G
UNC13C     SJD_15.3chr15:
54380907-54380912
GTCTGTGintronicDe novo--Trost2022 G
UNC13C     14-591chr15:
54384203-54384203
AGintronicDe novo--Trost2022 G
UNC13C     MSSNG00329-004chr15:
54367780-54367780
TGintronicDe novo--Trost2022 G
UNC13C     1026chr15:
54372970-54372970
TAintronicDe novo--Trost2022 G
UNC13C     2-1313-003Achr15:
54595841-54595841
ATintronicDe novo--Trost2022 G
UNC13C     2-1223-003chr15:
54588473-54588473
AGintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     2-1702-003chr15:
54557375-54557378
ATGTAintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     1-0188-003chr15:
54616486-54616486
TCintronicDe novo--Trost2022 G
UNC13C     3-0067-000chr15:
54539642-54539642
TCintronicDe novo--Trost2022 G
UNC13C     MSSNG00153-003chr15:
54578063-54578064
TATintronicDe novo--Trost2022 G
UNC13C     10C107392chr15:
54435189-54435189
CCCCTTCTTTTintronicDe novo--Satterstrom2020 E
Trost2022 G
UNC13C     SMHC01844d000chr15:
54793072-54793072
GAexonicDe novononsynonymous SNVNM_001080534c.G5197Ap.V1733M25.12.494E-5Yuan2023 E
UNC13C     MSSNG00199-003chr15:
54510702-54510702
AGintronicDe novo--Trost2022 G
UNC13C     AU061104chr15:
55083889-55083889
CTintergenicDe novo--Yuen2017 G
UNC13C     AU055603chr15:
54512704-54512704
TCintronicDe novo--Trost2022 G
UNC13C     7-0286-004Achr15:
54474395-54474395
GAintronicDe novo--Trost2022 G
UNC13C     3-0659-000chr15:
54490226-54490226
GAintronicDe novo--Trost2022 G
UNC13C     REACH000154chr15:
54813021-54813021
ATintronicDe novo--Trost2022 G
UNC13C     REACH000767chr15:
54822437-54822437
GAintronicDe novo--Trost2022 G
UNC13C     MT_48.3chr15:
54720979-54720979
TCintronicDe novo--Trost2022 G
UNC13C     1-1128-003chr15:
54725700-54725700
AGintronicDe novo--Trost2022 G
UNC13C     MSSNG00117-003chr15:
54701194-54701194
AGintronicDe novo--Trost2022 G
UNC13C     MSSNG00027-003chr15:
54717220-54717220
TCintronicDe novo--Trost2022 G
UNC13C     5-0114-003chr15:
55343594-55343594
CTintergenicDe novo--Yuen2017 G
UNC13C     10C117841chr15:
54803997-54803997
AGexonicDe novononsynonymous SNVNM_001080534c.A5426Gp.E1809G20.2-Fu2022 E
UNC13C     MSSNG00101-003chr15:
54659058-54659058
TGintronicDe novo--Trost2022 G
UNC13C     MSSNG00428-003chr15:
54665827-54665827
AGintronicDe novo--Trost2022 G
UNC13C     A22chr15:
55239706-55239706
ATintergenicDe novo--Wu2018 G
UNC13C     SJD_8.3chr15:
54925111-54925111
CTintergenicDe novo--Trost2022 G
UNC13C     AU1795302chr15:
55435760-55435760
CAintergenicDe novo--Yuen2017 G
UNC13C     AU021204chr15:
54945916-54945916
TCintergenicDe novo--Yuen2017 G
UNC13C     7-0395-003chr15:
54889794-54889794
TGintronicDe novo--Trost2022 G
UNC13C     MSSNG00439-003chr15:
54900282-54900282
CTintronicDe novo--Trost2022 G
UNC13C     2-1487-003chr15:
54743804-54743804
TAintronicDe novo--Yuen2017 G
UNC13C     AU3859301chr15:
54329617-54329617
GTintronicDe novo--Yuen2017 G
UNC13C     2-1511-003chr15:
55272961-55272961
CTintergenicDe novo--Yuen2017 G
UNC13C     AU2139305chr15:
55453954-55453954
GAintergenicDe novo--Yuen2017 G
UNC13C     1-0826-003chr15:
55315729-55315736
GGATGTGTGintergenicDe novo--Yuen2017 G
UNC13C     5-0055-003chr15:
55139614-55139614
AGintergenicDe novo--Yuen2017 G
UNC13C     2-1709-003chr15:
54858939-54858939
ATintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     7-0100-004chr15:
54407779-54407781
CAGCintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     2-1328-003chr15:
54327452-54327452
CAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
UNC13C     AU2433303chr15:
55064438-55064438
CTintergenicDe novo--Yuen2017 G
UNC13C     1-0169-003chr15:
54639116-54639116
GAintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     1-0382-004chr15:
54794991-54794991
CTintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     1-0495-003chr15:
54823302-54823302
TCintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     1-0834-003chr15:
55379513-55379513
CTintergenicDe novo--Yuen2017 G
UNC13C     5-0017-003chr15:
54410025-54410025
GAintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     5-0138-003chr15:
55427244-55427244
GAintergenicDe novo--Yuen2017 G
UNC13C     AU2109302chr15:
54320111-54320111
GAintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     1-0203-004chr15:
55023673-55023673
CGintergenicDe novo--Yuen2017 G
UNC13C     2-1355-003chr15:
54615720-54615720
ACintronicDe novo--Yuen2017 G
UNC13C     1-0487-003chr15:
54613356-54613356
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
UNC13C     1-0067-005chr15:
55210055-55210055
AGintergenicDe novo--Yuen2017 G
UNC13C     2-1261-004chr15:
54997151-54997151
GAintergenicDe novo--Yuen2017 G
UNC13C     MCD-024-3chr15:
54792341-54792341
CTexonicPaternalnonsynonymous SNVNM_001080534c.C5125Tp.H1709Y15.429.246E-6Tuncay2023 G
UNC13C     AU024606chr15:
54434953-54434953
TCintronicDe novo--Yuen2017 G
UNC13C     AU1952305chr15:
55446224-55446224
CTintergenicDe novo--Yuen2017 G
UNC13C     2-1131-003chr15:
54989646-54989646
GAintergenicDe novo--Yuen2016 G
UNC13C     1-0054-004chr15:
55208210-55208210
AGintergenicDe novo--Yuen2017 G
UNC13C     AU056003chr15:
55192575-55192575
TAintergenicDe novo--Yuen2017 G
UNC13C     G01_GEA544HIchr15:
54914592-54914592
GAexonicDe novosynonymous SNVNM_001080534c.G6174Ap.T2058T-1.666E-5Fu2022 E
UNC13C     MCD-024-3chr15:
54919033-54919033
GAexonicMaternalnonsynonymous SNVNM_001080534c.G6367Ap.G2123R15.227.214E-5Tuncay2023 G
UNC13C     2-0003-003chr15:
54893495-54893495
TCintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     AU3727303chr15:
55210517-55210517
TAintergenicDe novo--Yuen2017 G
UNC13C     2-0307-004chr15:
55452784-55452784
ATintergenicDe novo--Yuen2017 G
UNC13C     AU3263302chr15:
54919300-54919301
GAGexonicMaternalframeshift deletionNM_001080534c.6635delAp.E2212fs--Cirnigliaro2023 G
UNC13C     2-0109-003chr15:
54448974-54448974
CCAAAAAAAAAAAAAAAAAAintronicDe novo--Yuen2017 G
UNC13C     2-1718-003chr15:
55437681-55437681
GAintergenicDe novo--Yuen2017 G
UNC13C     mAGRE5685chr15:
54847642-54847642
CTexonicDe novostopgainNM_001080534c.C5890Tp.R1964X46.0-Cirnigliaro2023 G
UNC13C     mAGRE5372chr15:
54306117-54306117
CGexonicMaternalstopgainNM_001080534c.C1017Gp.Y339X36.0-Cirnigliaro2023 G
UNC13C     AU4012302chr15:
54328214-54328214
TCintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     AU4012302chr15:
54328884-54328884
GAintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     SP0059707chr15:
54592421-54592421
AGexonicDe novononsynonymous SNVNM_001080534c.A4118Gp.Y1373C11.54-Fu2022 E
Trost2022 G
Zhou2022 GE
UNC13C     AU4029301chr15:
54902494-54902494
CTintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     SP0043742chr15:
54914565-54914565
TCexonicDe novosynonymous SNVNM_001080534c.T6147Cp.H2049H--Fu2022 E
Trost2022 G
Zhou2022 GE
UNC13C     AU4054301chr15:
54592305-54592305
TCintronicDe novo--Trost2022 G
Yuen2017 G
UNC13C     SP0030260chr15:
54435841-54435841
TCexonicDe novosynonymous SNVNM_001080534c.T3031Cp.L1011L-1.0E-4Fu2022 E
Trost2022 G
Zhou2022 GE
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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