Variant Results

or

or

Results for "HNMT"

Variant Events: 28

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

HNMT

1-0158-012

chr2:
139145927-139145927

T

A

intergenic

De novo

-

-

Yuen2017 G

HNMT

AU007503

chr2:
139007684-139007684

A

C

intergenic

De novo

-

-

Yuen2017 G

HNMT

2-0122-003

chr2:
138802137-138802138

TC

T

intergenic

De novo

-

-

Yuen2017 G

HNMT

AU2139303

chr2:
138996881-138996881

C

A

intergenic

De novo

-

-

Yuen2017 G

HNMT

2-1189-003

chr2:
138850150-138850164

GTATATATATATATA

GTATATATATATA

intergenic

De novo

-

-

Yuen2017 G

HNMT

AU026412

chr2:
138988980-138988980

A

G

intergenic

De novo

-

-

Yuen2017 G

HNMT

AU4199303

chr2:
138950600-138950600

G

T

intergenic

De novo

-

-

Yuen2017 G

HNMT

1-0745-003

chr2:
138896619-138896619

T

C

intergenic

De novo

-

-

Yuen2017 G

HNMT

AU026412

chr2:
138988977-138988978

TA

T

intergenic

De novo

-

-

Yuen2017 G

HNMT

2-1486-003

chr2:
138863388-138863388

C

T

intergenic

De novo

-

-

Yuen2016 G

HNMT

2-1581-003

chr2:
139256894-139256894

A

G

intergenic

De novo

-

-

Yuen2017 G

HNMT

1-0345-004

chr2:
139083940-139083944

GAGAA

G

intergenic

De novo

-

-

Yuen2017 G

HNMT

AU031004

chr2:
138897249-138897253

AAACA

AAACAACA

intergenic

De novo

-

-

Yuen2017 G

HNMT

1-0158-003

chr2:
139175416-139175416

G

A

intergenic

De novo

-

-

Yuen2017 G

HNMT

7-0008-003

chr2:
138722620-138722620

C

T

intronic

De novo

-

-

Yuen2017 G

HNMT

1-0923-003

chr2:
138883307-138883307

C

T

intergenic

De novo

-

-

Yuen2017 G

HNMT

1-0755-003

chr2:
139144419-139144419

A

G

intergenic

De novo

-

-

Yuen2017 G

HNMT

AU2089302

chr2:
138944078-138944087

AATCATGTTT

A

intergenic

De novo

-

-

Yuen2017 G

HNMT

1-0558-003

chr2:
138885964-138885964

C

T

intergenic

De novo

-

-

Yuen2017 G

HNMT

AU4423303

chr2:
139121004-139121004

C

T

intergenic

De novo

-

-

Yuen2017 G

HNMT

AU4219302

chr2:
139082787-139082787

G

A

intergenic

De novo

-

-

Yuen2017 G

HNMT

2-1268-003

chr2:
138760177-138760177

C

T

intronic

De novo

-

-

Yuen2017 G

HNMT

AU3915301

chr2:
138814026-138814026

T

A

intergenic

De novo

-

-

Yuen2017 G

HNMT

74-0075

chr2:
139007684-139007684

A

C

intergenic

De novo

-

-

Michaelson2012 G

HNMT

2-1184-003

chr2:
139136229-139136247

ATGTGTGTGTGTGTGTGTG

ATGTGTGTGTGTGTGTG

intergenic

De novo

-

-

Yuen2017 G

HNMT

2-1105-003

chr2:
138837779-138837779

G

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

HNMT

SP0012364

chr2:
138727786-138727786

A

C

exonic

De novo

synonymous SNV

NM_001024075
NM_006895

c.A189C
c.A189C

p.A63A
p.A63A

-

-

Feliciano2019 E
Fu2022 E

HNMT

AU2793301

chr2:
138839066-138839066

C

T

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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