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Results for "HTR2A"

Variant Events: 61

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
HTR2A     2-1180-003chr13:
47509304-47509304
CGintergenicDe novo--Yuen2017 G
HTR2A     A4chr13:
47964378-47964378
CTintergenicDe novo--Wu2018 G
HTR2A     2-1341-003chr13:
48001648-48001648
CTintergenicDe novo--Yuen2017 G
HTR2A     1-0553-003chr13:
48447227-48447227
GGTGTCTGTGGCTintergenicDe novo--Yuen2017 G
HTR2A     2-1730-003chr13:
47869189-47869189
GTintergenicDe novo--Yuen2017 G
HTR2A     AU1725302chr13:
48094436-48094436
GCintergenicDe novo--Yuen2017 G
HTR2A     2-0057-004chr13:
47719110-47719110
TTTTTCTTTCTTTTCintergenicDe novo--Yuen2017 G
HTR2A     5-0087-003chr13:
47779402-47779402
TGintergenicDe novo--Yuen2017 G
HTR2A     iHART1312chr13:
47409667-47409668
CACexonicPaternalframeshift deletionNM_001165947
NM_000621
c.468delT
c.720delT
p.F156fs
p.F240fs
--Ruzzo2019 G
HTR2A     AU3915301chr13:
48482540-48482540
GAintergenicDe novo--Yuen2017 G
HTR2A     2-0307-003chr13:
47930533-47930533
CTintergenicDe novo--Yuen2017 G
HTR2A     AU2792301chr13:
47481392-47481392
AGintergenicDe novo--Yuen2017 G
HTR2A     AU3052302chr13:
48192699-48192699
GAintergenicDe novo--Yuen2017 G
HTR2A     2-1391-004chr13:
47997405-47997405
CAintergenicDe novo--Yuen2017 G
HTR2A     7-0249-004chr13:
47658518-47658518
TCintergenicDe novo--Yuen2017 G
HTR2A     1-0092-004chr13:
48193504-48193504
GAintergenicDe novo--Yuen2017 G
HTR2A     2-1407-003chr13:
48310699-48310699
CTintergenicDe novo--Yuen2017 G
HTR2A     AU3849303chr13:
47987930-47987930
GAintergenicDe novo--Yuen2017 G
HTR2A     2-1398-004chr13:
47664823-47664823
AGintergenicDe novo--Yuen2017 G
HTR2A     AU0146301chr13:
48214226-48214226
TCintergenicDe novo--Yuen2017 G
HTR2A     1-0668-003chr13:
48058503-48058503
CGintergenicDe novo--Yuen2017 G
HTR2A     2-1437-003chr13:
47958227-47958227
GAintergenicDe novo--Yuen2017 G
HTR2A     DEASD_1080_001chr13:
47469760-47469760
GAexonicDe novosynonymous SNVNM_000621c.C282Tp.L94L--Satterstrom2020 E
HTR2A     1-0826-003chr13:
47622540-47622540
TCintergenicDe novo--Yuen2017 G
HTR2A     1-0190-003chr13:
47578492-47578492
CTintergenicDe novo--Yuen2017 G
HTR2A     2-1339-003chr13:
48286005-48286005
CCTCCTintergenicDe novo--Yuen2017 G
HTR2A     1-0265-004chr13:
47668506-47668506
TTGintergenicDe novo--Yuen2017 G
HTR2A     1-0373-003chr13:
47431758-47431764
GGCATTTGintronicDe novo--Yuen2017 G
HTR2A     2-0309-004chr13:
48033366-48033366
CTintergenicDe novo--Yuen2017 G
HTR2A     5-0106-003chr13:
47512384-47512384
AGintergenicDe novo--Yuen2017 G
HTR2A     1-0273-004chr13:
47523219-47523219
AGintergenicDe novo--Yuen2017 G
HTR2A     AU1404302chr13:
48165484-48165484
TCintergenicDe novo--Yuen2017 G
HTR2A     2-1364-003chr13:
48094133-48094133
AGintergenicDe novo--Yuen2017 G
HTR2A     AU1355301chr13:
47434079-47434079
CTintronicDe novo--Yuen2017 G
HTR2A     5-0042-003chr13:
48114254-48114254
CAintergenicDe novo--Yuen2017 G
HTR2A     AU1355301chr13:
47545629-47545644
TTATATATATATATATTTATATATATATATintergenicDe novo--Yuen2017 G
HTR2A     2-1292-004chr13:
47966894-47966894
TAintergenicDe novo--Yuen2017 G
HTR2A     AU4487302chr13:
47659602-47659602
ACintergenicDe novo--Yuen2017 G
HTR2A     2-1567-004chr13:
47583410-47583410
ATintergenicDe novo--Yuen2017 G
HTR2A     Codina-Sola2015:ASD_16chr13:
47469765-47469765
TCexonicPaternalnonsynonymous SNVNM_000621c.A277Gp.I93V19.14-Codina-Sola2015 E
HTR2A     2-1461-003chr13:
48342911-48342911
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
HTR2A     2-1725-003chr13:
47772364-47772364
TCintergenicDe novo--Yuen2017 G
HTR2A     1-0400-003chr13:
48066317-48066317
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
HTR2A     2-1189-003chr13:
48106257-48106257
TCintergenicDe novo--Yuen2017 G
HTR2A     1-0479-006chr13:
47722299-47722299
CTintergenicDe novo--Yuen2017 G
HTR2A     1-0896-003chr13:
47752503-47752503
AGintergenicDe novo--Yuen2017 G
HTR2A     13951.p1chr13:
48482774-48482774
CTintergenicDe novo--Turner2016 G
HTR2A     1-0777-003chr13:
48439275-48439275
TCintergenicDe novo--Yuen2017 G
HTR2A     AU4093301chr13:
48208127-48208127
TCintergenicDe novo--Yuen2017 G
HTR2A     1-0048-003chr13:
48397400-48397400
GCintergenicDe novo--Yuen2017 G
HTR2A     1-0041-003chr13:
47710246-47710246
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
HTR2A     1-0403-003chr13:
48431189-48431189
GTintergenicDe novo--Yuen2017 G
HTR2A     2-1567-003chr13:
47583410-47583410
ATintergenicDe novo--Yuen2017 G
HTR2A     1-0756-003chr13:
48499514-48499514
CTintergenicDe novo--Yuen2017 G
HTR2A     7-0082-003chr13:
47605573-47605573
CTintergenicDe novo--Yuen2017 G
HTR2A     1-0065-005chr13:
48366870-48366870
TCintergenicDe novo--Yuen2017 G
HTR2A     AU1742302chr13:
48037730-48037730
CTintergenicDe novo--Yuen2017 G
HTR2A     2-0295-004chr13:
47581145-47581145
TAintergenicDe novo--Yuen2017 G
HTR2A     1-0632-003chr13:
48039663-48039663
GAintergenicDe novo--Yuen2017 G
HTR2A     3-0111-000chr13:
48298969-48298969
TGintergenicDe novo--Yuen2016 G
HTR2A     1-0259-005chr13:
48498138-48498143
GGAAAAGintergenicDe 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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