Variant Results

or

or

Results for "HCAR1"

Variant Events: 23

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

HCAR1

1-0206-003

chr12:
123225520-123225520

C

T

intergenic

De novo

-

-

Yuen2017 G

HCAR1

5-0003-003

chr12:
123225509-123225509

G

T

intergenic

De novo

-

-

Yuen2017 G

HCAR1

09C99837

chr12:
123213933-123213933

G

A

exonic

De novo

synonymous SNV

NM_032554

c.C954T

p.L318L

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HCAR1

2-0307-004

chr12:
123225520-123225520

C

T

intergenic

De novo

-

-

Yuen2017 G

HCAR1

AU4243302

chr12:
123225016-123225016

T

A

intergenic

De novo

-

-

Yuen2017 G

HCAR1

12483_p1

chr12:
123214180-123214180

C

T

exonic

De novo

nonsynonymous SNV

NM_032554

c.G707A

p.S236N

19.74

-

Fu2022 E

HCAR1

12483.p1

chr12:
123214180-123214180

C

T

exonic

De novo

nonsynonymous SNV

NM_032554

c.G707A

p.S236N

19.74

-

Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HCAR1

mAGRE1413

chr12:
123214565-123214567

CCG

C

exonic

Maternal

frameshift deletion

NM_032554

c.320_321del

p.T107fs

-

Cirnigliaro2023 G

HCAR1

mAGRE1412

chr12:
123214565-123214567

CCG

C

exonic

Maternal

frameshift deletion

NM_032554

c.320_321del

p.T107fs

-

Cirnigliaro2023 G

HCAR1

2-1314-003

chr12:
123213933-123213933

G

A

exonic

De novo

synonymous SNV

NM_032554

c.C954T

p.L318L

-

Jiang2013 G
Yuen2016 G
Zhou2022 GE

HCAR1

1-0763-004

chr12:
123225528-123225528

C

T

intergenic

De novo

-

-

Yuen2017 G

HCAR1

2-1174-005B

chr12:
123225509-123225509

G

T

intergenic

De novo

-

-

Yuen2017 G

HCAR1

2-1738-003

chr12:
123222967-123222967

G

A

intergenic

De novo

-

-

Yuen2017 G

HCAR1

2-1350-003

chr12:
123225520-123225520

C

T

intergenic

De novo

-

-

Yuen2017 G

HCAR1

iHART1413

chr12:
123214565-123214567

CCG

C

exonic

Maternal

frameshift deletion

NM_032554

c.320_321del

p.T107fs

-

Ruzzo2019 G

HCAR1

1-0526-003

chr12:
123225509-123225509

G

T

intergenic

De novo

-

-

Yuen2017 G

HCAR1

iHART1412

chr12:
123214565-123214567

CCG

C

exonic

Maternal

frameshift deletion

NM_032554

c.320_321del

p.T107fs

-

Ruzzo2019 G

HCAR1

2-1314-003B

chr12:
123213933-123213933

G

A

exonic

synonymous SNV

NM_032554

c.C954T

p.L318L

-

Zhou2022 GE

HCAR1

1-0305-004

chr12:
123225520-123225520

C

T

intergenic

De novo

-

-

Yuen2017 G

HCAR1

7-0100-004

chr12:
123225523-123225523

C

G

intergenic

De novo

-

-

Yuen2017 G

HCAR1

1-0138-003

chr12:
123225531-123225531

C

G

intergenic

De novo

-

-

Yuen2017 G

HCAR1

1-0565-003

chr12:
123225520-123225520

C

T

intergenic

De novo

-

-

Yuen2017 G

HCAR1

1-0158-003

chr12:
123225520-123225520

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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