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Results for "LOC100507205"

Variant Events: 63

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
LOC100507205   AU4007301chr11:
42315575-42315575
CAintergenicDe novo--Yuen2017 G
LOC100507205   2-1085-003chr11:
42412516-42412516
CAintergenicDe novo--Yuen2017 G
LOC100507205   5-0087-003chr11:
43223410-43223410
TGintergenicDe novo--Yuen2017 G
LOC100507205   2-1720-003chr11:
42324100-42324100
AGintergenicDe novo--Yuen2017 G
LOC100507205   2-1189-003chr11:
42704690-42704690
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100507205   AU056204chr11:
42540085-42540085
CAintergenicDe novo--Yuen2017 G
LOC100507205   2-1356-003chr11:
42815168-42815168
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100507205   2-0063-005chr11:
43080278-43080278
TTTCTCTATAintergenicDe novo--Yuen2017 G
LOC100507205   AU4242302chr11:
43234303-43234303
CAintergenicDe novo--Yuen2017 G
LOC100507205   AU4250301chr11:
42215778-42215778
GCncRNA_intronicDe novo--Yuen2017 G
LOC100507205   1-0253-004chr11:
42744509-42744509
TCintergenicDe novo--Yuen2017 G
LOC100507205   2-1279-003chr11:
42298749-42298749
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100507205   2-1455-003chr11:
42971323-42971323
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100507205   1-0514-003chr11:
42244007-42244007
AGncRNA_intronicDe novo--Yuen2016 G
Yuen2017 G
LOC100507205   5-0018-003chr11:
42497173-42497173
CTintergenicDe novo--Yuen2017 G
LOC100507205   AU054103chr11:
43154168-43154168
GAintergenicDe novo--Yuen2017 G
LOC100507205   AU063005chr11:
42722135-42722135
TGintergenicDe novo--Yuen2017 G
LOC100507205   7-0255-003chr11:
42854181-42854181
AGintergenicDe novo--Yuen2017 G
LOC100507205   AU066404chr11:
43081358-43081358
TCintergenicDe novo--Yuen2017 G
LOC100507205   1-0153-004chr11:
42856281-42856281
TCintergenicDe novo--Yuen2017 G
LOC100507205   13143.p1chr11:
42872374-42872374
CTintergenicDe novo--Wilfert2021 G
LOC100507205   2-0273-003chr11:
42603001-42603001
GTintergenicDe novo--Yuen2017 G
LOC100507205   2-1258-004chr11:
42794435-42794435
CTintergenicDe novo--Yuen2017 G
LOC100507205   1-0139-005chr11:
42389559-42389559
GTintergenicDe novo--Yuen2017 G
LOC100507205   2-0012-004chr11:
42655305-42655305
ATintergenicDe novo--Yuen2017 G
LOC100507205   2-1366-004chr11:
42405850-42405852
CAGCintergenicDe novo--Yuen2017 G
LOC100507205   AU3861302chr11:
42546405-42546405
TAintergenicDe novo--Yuen2017 G
LOC100507205   3-0439-000chr11:
42870878-42870878
ACintergenicDe novo--Yuen2016 G
LOC100507205   AU051503chr11:
42364369-42364375
TATAAATTATintergenicDe novo--Yuen2017 G
LOC100507205   7-0023-003chr11:
42365026-42365026
AGintergenicDe novo--Yuen2017 G
LOC100507205   AU002903chr11:
42948556-42948556
CGintergenicDe novo--Yuen2017 G
LOC100507205   2-1302-003chr11:
42775697-42775697
ACintergenicDe novo--Yuen2017 G
LOC100507205   AU017304chr11:
42379216-42379216
AGintergenicDe novo--Yuen2017 G
LOC100507205   AU026604chr11:
42275040-42275040
CTncRNA_intronicDe novo--Yuen2017 G
LOC100507205   AU3881302chr11:
42909528-42909528
TCintergenicDe novo--Yuen2017 G
LOC100507205   1-0248-003chr11:
43141740-43141740
CTintergenicDe novo--Yuen2017 G
LOC100507205   2-1696-003chr11:
42458870-42458870
TGintergenicDe novo--Yuen2017 G
LOC100507205   3-0432-000chr11:
42546065-42546065
AGintergenicDe novo--Yuen2017 G
LOC100507205   2-0016-003chr11:
42381624-42381624
GAintergenicDe novo--Yuen2017 G
LOC100507205   AU031204chr11:
42596939-42596939
GCintergenicDe novo--Yuen2017 G
LOC100507205   2-1205-003chr11:
42405525-42405525
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100507205   2-0242-004chr11:
42466068-42466068
CCAintergenicDe novo--Yuen2017 G
LOC100507205   AU2137304chr11:
42556492-42556492
GAintergenicDe novo--Yuen2017 G
LOC100507205   3-0430-000chr11:
43007126-43007126
CTintergenicDe novo--Yuen2016 G
LOC100507205   2-0022-005chr11:
42460776-42460780
CCTCTCCTintergenicDe novo--Yuen2017 G
LOC100507205   AU2433302chr11:
43175130-43175130
GAintergenicDe novo--Yuen2017 G
LOC100507205   5-0003-003chr11:
43080278-43080278
TTTCTCTATAintergenicDe novo--Yuen2017 G
LOC100507205   7-0059-003chr11:
42497129-42497129
TGintergenicDe novo--Yuen2017 G
LOC100507205   AU3727303chr11:
43029362-43029362
GTintergenicDe novo--Yuen2017 G
LOC100507205   AU3852301chr11:
43006306-43006306
AGintergenicDe novo--Yuen2017 G
LOC100507205   2-1350-004chr11:
42743190-42743190
AAGAGintergenicDe novo--Yuen2017 G
LOC100507205   AU4315302chr11:
42482289-42482289
TAintergenicDe novo--Yuen2017 G
LOC100507205   3-0447-000chr11:
43218139-43218139
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100507205   1-0935-003chr11:
43264987-43264987
GAintergenicDe novo--Yuen2017 G
LOC100507205   2-1437-004chr11:
42910882-42910882
GAintergenicDe novo--Yuen2017 G
LOC100507205   1-0043-003chr11:
42208374-42208374
GGTATAdownstreamDe novo--Yuen2017 G
LOC100507205   AU2427301chr11:
42734007-42734007
TCintergenicDe novo--Yuen2017 G
LOC100507205   2-0244-004chr11:
42759899-42759916
CTGCACGTTCTGCACATGCintergenicDe novo--Yuen2017 G
LOC100507205   1-0213-004chr11:
42937507-42937507
CTintergenicDe novo--Yuen2017 G
LOC100507205   2-1164-003chr11:
43120390-43120390
TGintergenicDe novo--Yuen2017 G
LOC100507205   AU2089301chr11:
42371797-42371797
TCintergenicDe novo--Yuen2017 G
LOC100507205   AU3716302chr11:
43177146-43177146
GAintergenicDe novo--Yuen2017 G
LOC100507205   2-1529-003chr11:
42232265-42232265
GAncRNA_intronicDe 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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