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Results for "LOC100289230"

Variant Events: 30

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
LOC100289230   2-0295-003chr5:
98651779-98651779
ATintergenicDe novo--Yuen2017 G
LOC100289230   AU2165301chr5:
98315109-98315109
CTintergenicDe novo--Yuen2017 G
LOC100289230   AU1795302chr5:
98440376-98440384
TTAAATAAATTAAAintergenicDe novo--Yuen2017 G
LOC100289230   2-0045-003chr5:
98566437-98566437
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100289230   AU2793301chr5:
98336458-98336458
TGintergenicDe novo--Yuen2017 G
LOC100289230   1-0640-003chr5:
98285638-98285638
TGintergenicDe novo--Yuen2017 G
LOC100289230   1-0099-003chr5:
98680282-98680282
AGintergenicDe novo--Yuen2017 G
LOC100289230   2-0320-003chr5:
98391059-98391059
CTintergenicDe novo--Yuen2017 G
LOC100289230   2-0305-004chr5:
98576402-98576402
TCintergenicDe novo--Yuen2017 G
LOC100289230   2-1486-003chr5:
98557109-98557109
GTintergenicDe novo--Yuen2016 G
LOC100289230   2-1268-003chr5:
98372813-98372813
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100289230   2-1605-004chr5:
98323602-98323602
TCintergenicDe novo--Yuen2017 G
LOC100289230   1-0458-004chr5:
98306569-98306569
GAintergenicDe novo--Yuen2017 G
LOC100289230   2-1579-003chr5:
98328622-98328622
GCintergenicDe novo--Yuen2017 G
LOC100289230   2-0256-004chr5:
98590036-98590036
CTintergenicDe novo--Yuen2017 G
LOC100289230   AU2863303chr5:
98681413-98681413
GAintergenicDe novo--Yuen2017 G
LOC100289230   1-0706-003chr5:
98452074-98452074
AGintergenicDe novo--Yuen2017 G
LOC100289230   2-1146-003chr5:
98551672-98551672
GTintergenicDe novo--Yuen2017 G
LOC100289230   AU4056301chr5:
98858026-98858026
GAintergenicDe novo--Yuen2017 G
LOC100289230   7-0106-003chr5:
98728410-98728410
ATintergenicDe novo--Yuen2017 G
LOC100289230   2-0013-003chr5:
98665176-98665176
CTintergenicDe novo--Yuen2017 G
LOC100289230   2-1402-003chr5:
98843573-98843573
AGintergenicDe novo--Yuen2017 G
LOC100289230   AU1223301chr5:
98440377-98440386
TAAATAAAAATAAAintergenicDe novo--Yuen2017 G
LOC100289230   1-0158-003chr5:
98634616-98634616
TTCAGGAAintergenicDe novo--Yuen2017 G
LOC100289230   2-1153-003chr5:
98531735-98531735
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100289230   2-1378-003chr5:
98842494-98842494
GAintergenicDe novo--Yuen2017 G
LOC100289230   AU4152303chr5:
98470427-98470427
TCintergenicDe novo--Yuen2017 G
LOC100289230   2-1440-003chr5:
98568779-98568779
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100289230   AU039305chr5:
98637636-98637636
CTintergenicDe novo--Yuen2017 G
LOC100289230   1-0651-003chr5:
98372151-98372151
GCintergenicDe 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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