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Results for "LOC100422212"

Variant Events: 54

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
LOC100422212   5-0014-003chr1:
164514112-164514112
AGintergenicDe novo--Yuen2017 G
LOC100422212   1-0511-003chr1:
164384708-164384708
CTintergenicDe novo--Yuen2017 G
LOC100422212   AU4412302chr1:
164079235-164079235
CAintergenicDe novo--Yuen2017 G
LOC100422212   AU059903chr1:
163505978-163505978
AGintergenicDe novo--Yuen2017 G
LOC100422212   1-0246-004chr1:
164014026-164014026
GCintergenicDe novo--Yuen2017 G
LOC100422212   2-0306-004chr1:
164368399-164368399
ATintergenicDe novo--Yuen2017 G
LOC100422212   2-1352-003chr1:
163659476-163659476
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100422212   13298.p1chr1:
163959105-163959105
TAintergenicDe novo--Turner2016 G
LOC100422212   1-0551-003chr1:
164038932-164038932
AGintergenicDe novo--Yuen2017 G
LOC100422212   11089.p1chr1:
164185709-164185709
CAintergenicDe novo--Turner2016 G
LOC100422212   1-0467-003chr1:
164147146-164147146
GAintergenicDe novo--Yuen2017 G
LOC100422212   AU4122301chr1:
163828904-163828904
GAintergenicDe novo--Yuen2017 G
LOC100422212   2-1455-003chr1:
164514238-164514238
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100422212   2-1736-003chr1:
163907062-163907062
GAintergenicDe novo--Yuen2017 G
LOC100422212   AU4122301chr1:
163828866-163828866
GTintergenicDe novo--Yuen2017 G
LOC100422212   2-0318-004chr1:
163829857-163829857
CAintergenicDe novo--Yuen2017 G
LOC100422212   1-0507-003chr1:
163481349-163481349
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100422212   AU3175302chr1:
163793149-163793154
CTTTTTCTTTTintergenicDe novo--Yuen2017 G
LOC100422212   1-0507-003chr1:
163462247-163462247
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100422212   1-0656-003chr1:
163664939-163664939
CTintergenicDe novo--Yuen2017 G
LOC100422212   3-0392-000chr1:
164012438-164012438
TAintergenicDe novo--Yuen2016 G
LOC100422212   2-0022-005chr1:
164139216-164139216
TGintergenicDe novo--Yuen2017 G
LOC100422212   1-0560-003chr1:
163551613-163551613
CAintergenicDe novo--Yuen2017 G
LOC100422212   2-0116-004chr1:
163504387-163504387
TCintergenicDe novo--Yuen2017 G
LOC100422212   AU4410302chr1:
163971624-163971624
GCintergenicDe novo--Yuen2017 G
LOC100422212   1-0186-005chr1:
164449693-164449693
TTCAintergenicDe novo--Yuen2017 G
LOC100422212   1-0277-003chr1:
164255430-164255430
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100422212   2-0297-003chr1:
163525778-163525778
CTintergenicDe novo--Yuen2017 G
LOC100422212   2-1066-003chr1:
164016802-164016802
GAintergenicDe novo--Yuen2017 G
LOC100422212   1-0272-004chr1:
164195954-164195954
GCintergenicDe novo--Yuen2017 G
LOC100422212   12407.p1chr1:
163796319-163796319
GAintergenicDe novo--Werling2018 G
LOC100422212   AU076705chr1:
163419747-163419747
TAintergenicDe novo--Yuen2017 G
LOC100422212   AU4007302chr1:
163615137-163615137
CTintergenicDe novo--Yuen2017 G
LOC100422212   AU3846302chr1:
164073545-164073545
TCintergenicDe novo--Yuen2017 G
LOC100422212   2-0300-004chr1:
163840578-163840578
AATATATTTintergenicDe novo--Yuen2017 G
LOC100422212   2-1129-003chr1:
163932827-163932827
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100422212   1-0201-005chr1:
163665254-163665254
TCintergenicDe novo--Yuen2017 G
LOC100422212   1-0487-003chr1:
164461813-164461813
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100422212   1-0006-004chr1:
163443142-163443142
TGintergenicDe novo--Yuen2017 G
LOC100422212   2-1693-003chr1:
164160843-164160843
CTintergenicDe novo--Yuen2017 G
LOC100422212   1-0290-003chr1:
163391957-163391957
ATncRNA_exonicDe novo--Yuen2017 G
LOC100422212   1-0513-003chr1:
163654861-163654861
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100422212   AU4211304chr1:
164158121-164158121
GAintergenicDe novo--Yuen2017 G
LOC100422212   2-1365-003chr1:
164385171-164385171
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100422212   1-0998-003chr1:
163615296-163615296
CTintergenicDe novo--Yuen2017 G
LOC100422212   2-0018-004chr1:
164249371-164249371
GAintergenicDe novo--Yuen2017 G
LOC100422212   2-1364-003chr1:
163830175-163830175
AGintergenicDe novo--Yuen2017 G
LOC100422212   AU3874301chr1:
163812416-163812416
CTintergenicDe novo--Yuen2017 G
LOC100422212   2-0070-003chr1:
164508574-164508574
GGTAAintergenicDe novo--Yuen2017 G
LOC100422212   1-0495-003chr1:
163694839-163694839
AGintergenicDe novo--Yuen2017 G
LOC100422212   AU030703chr1:
163533497-163533497
GAintergenicDe novo--Yuen2017 G
LOC100422212   1-0627-007chr1:
164088971-164088971
CAintergenicDe novo--Yuen2017 G
LOC100422212   2-0273-003chr1:
164265056-164265056
TCintergenicDe novo--Yuen2017 G
LOC100422212   13508.p1chr1:
164021579-164021579
AGintergenicDe novo--Werling2018 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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