Variant Results

or

or

Results for "SLC22A25"

Variant Events: 18

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

SLC22A25

2-1723-003

chr11:
62938594-62938595

GT

CTA

intronic

De novo

-

-

Trost2022 G

SLC22A25

AU2951302

chr11:
62937104-62937104

C

T

intronic

De novo

-

-

Yuen2017 G

SLC22A25

AU066404

chr11:
62960051-62960051

G

C

intronic

De novo

-

-

Yuen2017 G

SLC22A25

1-0336-003

chr11:
63036065-63036065

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC22A25

AU3052302

chr11:
63008303-63008304

CT

CTT

intergenic

De novo

-

-

Yuen2017 G

SLC22A25

7-0337-003

chr11:
62947192-62947192

T

C

intronic

De novo

-

-

Trost2022 G

SLC22A25

2-1736-003

chr11:
63023700-63023700

T

C

intergenic

De novo

-

-

Yuen2017 G

SLC22A25

MSSNG00045-005

chr11:
62962416-62962416

T

G

intronic

De novo

-

-

Trost2022 G

SLC22A25

1-0092-003

chr11:
62941483-62941485

CAC

TAT

intronic

De novo

-

-

Trost2022 G

SLC22A25

1-0092-003

chr11:
62941488-62941488

A

AGGTTTTAAACCATGTATG

intronic

De novo

-

-

Trost2022 G

SLC22A25

2-0142-003

chr11:
62941488-62941488

A

AGGTTTTAAACCATGTATG

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC22A25

04C35712

chr11:
62996969-62996969

A

G

exonic

De novo

synonymous SNV

NM_199352

c.T156C

p.H52H

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SLC22A25

1-0433-004

chr11:
62937090-62937090

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC22A25

2-0319-004

chr11:
62996969-62996969

A

G

exonic

De novo

synonymous SNV

NM_199352

c.T156C

p.H52H

-

-

Yuen2015 G
Yuen2017 G
Zhou2022 GE

SLC22A25

AU2951303

chr11:
62937104-62937104

C

T

intronic

De novo

-

-

Yuen2017 G

SLC22A25

mAGRE4511

chr11:
62996879-62996887

ATTTGAGTC

A

exonic

Maternal

frameshift deletion

NM_199352

c.238_245del

p.D80fs

-

Cirnigliaro2023 G

SLC22A25

5-0137-003

chr11:
62990946-62990946

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC22A25

mAGRE2528

chr11:
62996879-62996887

ATTTGAGTC

A

exonic

Paternal

frameshift deletion

NM_199352

c.238_245del

p.D80fs

-

Cirnigliaro2023 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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