Variant Results

or

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

2-1180-003

chr13:
47509304-47509304

C

G

intergenic

De novo

-

Yuen2017 G

HTR2A

A4

chr13:
47964378-47964378

C

T

intergenic

De novo

-

Wu2018 G

HTR2A

2-1341-003

chr13:
48001648-48001648

C

T

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0553-003

chr13:
48447227-48447227

G

GTGTCTGTGGCT

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1730-003

chr13:
47869189-47869189

G

T

intergenic

De novo

-

Yuen2017 G

HTR2A

AU1725302

chr13:
48094436-48094436

G

C

intergenic

De novo

-

Yuen2017 G

HTR2A

2-0057-004

chr13:
47719110-47719110

T

TTTTCTTTCTTTTC

intergenic

De novo

-

Yuen2017 G

HTR2A

5-0087-003

chr13:
47779402-47779402

T

G

intergenic

De novo

-

Yuen2017 G

HTR2A

iHART1312

chr13:
47409667-47409668

CA

C

exonic

Paternal

frameshift deletion

NM_001165947
NM_000621

c.468delT
c.720delT

p.F156fs
p.F240fs

-

Ruzzo2019 G

HTR2A

AU3915301

chr13:
48482540-48482540

G

A

intergenic

De novo

-

Yuen2017 G

HTR2A

2-0307-003

chr13:
47930533-47930533

C

T

intergenic

De novo

-

Yuen2017 G

HTR2A

AU2792301

chr13:
47481392-47481392

A

G

intergenic

De novo

-

Yuen2017 G

HTR2A

AU3052302

chr13:
48192699-48192699

G

A

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1391-004

chr13:
47997405-47997405

C

A

intergenic

De novo

-

Yuen2017 G

HTR2A

7-0249-004

chr13:
47658518-47658518

T

C

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0092-004

chr13:
48193504-48193504

G

A

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1407-003

chr13:
48310699-48310699

C

T

intergenic

De novo

-

Yuen2017 G

HTR2A

AU3849303

chr13:
47987930-47987930

G

A

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1398-004

chr13:
47664823-47664823

A

G

intergenic

De novo

-

Yuen2017 G

HTR2A

AU0146301

chr13:
48214226-48214226

T

C

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0668-003

chr13:
48058503-48058503

C

G

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1437-003

chr13:
47958227-47958227

G

A

intergenic

De novo

-

Yuen2017 G

HTR2A

DEASD_1080_001

chr13:
47469760-47469760

G

A

exonic

De novo

synonymous SNV

NM_000621

c.C282T

p.L94L

-

Fu2022 E
Satterstrom2020 E

HTR2A

1-0826-003

chr13:
47622540-47622540

T

C

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0190-003

chr13:
47578492-47578492

C

T

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1339-003

chr13:
48286005-48286005

C

CTCCT

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0265-004

chr13:
47668506-47668506

T

TG

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0373-003

chr13:
47431758-47431764

GGCATTT

G

intronic

De novo

-

Yuen2017 G

HTR2A

2-0309-004

chr13:
48033366-48033366

C

T

intergenic

De novo

-

Yuen2017 G

HTR2A

5-0106-003

chr13:
47512384-47512384

A

G

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0273-004

chr13:
47523219-47523219

A

G

intergenic

De novo

-

Yuen2017 G

HTR2A

AU1404302

chr13:
48165484-48165484

T

C

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1364-003

chr13:
48094133-48094133

A

G

intergenic

De novo

-

Yuen2017 G

HTR2A

AU1355301

chr13:
47434079-47434079

C

T

intronic

De novo

-

Yuen2017 G

HTR2A

5-0042-003

chr13:
48114254-48114254

C

A

intergenic

De novo

-

Yuen2017 G

HTR2A

AU1355301

chr13:
47545629-47545644

TTATATATATATATAT

TTATATATATATAT

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1292-004

chr13:
47966894-47966894

T

A

intergenic

De novo

-

Yuen2017 G

HTR2A

AU4487302

chr13:
47659602-47659602

A

C

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1567-004

chr13:
47583410-47583410

A

T

intergenic

De novo

-

Yuen2017 G

HTR2A

Codina-Sola2015:ASD_16

chr13:
47469765-47469765

T

C

exonic

Paternal

nonsynonymous SNV

NM_000621

c.A277G

p.I93V

19.14

-

Codina-Sola2015 E

HTR2A

2-1461-003

chr13:
48342911-48342911

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

HTR2A

2-1725-003

chr13:
47772364-47772364

T

C

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0400-003

chr13:
48066317-48066317

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

HTR2A

2-1189-003

chr13:
48106257-48106257

T

C

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0479-006

chr13:
47722299-47722299

C

T

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0896-003

chr13:
47752503-47752503

A

G

intergenic

De novo

-

Yuen2017 G

HTR2A

13951.p1

chr13:
48482774-48482774

C

T

intergenic

De novo

-

Turner2016 G

HTR2A

1-0777-003

chr13:
48439275-48439275

T

C

intergenic

De novo

-

Yuen2017 G

HTR2A

AU4093301

chr13:
48208127-48208127

T

C

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0048-003

chr13:
48397400-48397400

G

C

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0041-003

chr13:
47710246-47710246

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

HTR2A

1-0403-003

chr13:
48431189-48431189

G

T

intergenic

De novo

-

Yuen2017 G

HTR2A

2-1567-003

chr13:
47583410-47583410

A

T

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0756-003

chr13:
48499514-48499514

C

T

intergenic

De novo

-

Yuen2017 G

HTR2A

7-0082-003

chr13:
47605573-47605573

C

T

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0065-005

chr13:
48366870-48366870

T

C

intergenic

De novo

-

Yuen2017 G

HTR2A

AU1742302

chr13:
48037730-48037730

C

T

intergenic

De novo

-

Yuen2017 G

HTR2A

2-0295-004

chr13:
47581145-47581145

T

A

intergenic

De novo

-

Yuen2017 G

HTR2A

1-0632-003

chr13:
48039663-48039663

G

A

intergenic

De novo

-

Yuen2017 G

HTR2A

3-0111-000

chr13:
48298969-48298969

T

G

intergenic

De novo

-

Yuen2016 G

HTR2A

1-0259-005

chr13:
48498138-48498143

GGAAAA

G

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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