Variant Results

or

or

Results for "SLC15A1"

Variant Events: 21

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

SLC15A1

152-HSC0079

chr13:
99361005-99361005

C

G

exonic

Inherited

nonsynonymous SNV

NM_005073

c.G1084C

p.A362P

14.11

Patowary2019 E

SLC15A1

AU2000304

chr13:
99426496-99426496

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC15A1

11940.p1

chr13:
99379122-99379146

AAAACAGAATCCCAATATTAAAGTC

A

intronic

De novo

-

Satterstrom2020 E

SLC15A1

iHART1908

chr13:
99358483-99358483

C

A

exonic

Maternal

stopgain

NM_005073

c.G1174T

p.G392X

23.0

-

Ruzzo2019 G

SLC15A1

AU024105

chr13:
99369102-99369102

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC15A1

mAGRE5393

chr13:
99378481-99378481

C

T

exonic

Paternal

stopgain

NM_005073

c.G141A

p.W47X

36.0

Cirnigliaro2023 G

SLC15A1

12693.p1

chr13:
99360954-99360954

G

T

exonic

Mosaic

nonsynonymous SNV

NM_005073

c.C1135A

p.Q379K

20.7

-

Dou2017 E

SLC15A1

Wang2023:468

chr13:
99362007-99362007

C

T

exonic

De novo

nonsynonymous SNV

NM_005073

c.G967A

p.D323N

33.0

Wang2023 E

SLC15A1

SP0009287

chr13:
99354735-99354735

T

C

exonic

De novo

nonsynonymous SNV

NM_005073

c.A1465G

p.R489G

11.71

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SLC15A1

SP0057792

chr13:
99368120-99368120

T

G

intronic

De novo

-

-

Fu2022 E

SLC15A1

SP0027031

chr13:
99360880-99360880

T

A

intronic

De novo

-

-

Fu2022 E

SLC15A1

AU4028302

chr13:
99381763-99381763

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC15A1

AU0786305

chr13:
99390980-99390980

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC15A1

1-0906-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

SLC15A1

mAGRE1908

chr13:
99358483-99358483

C

A

exonic

Maternal

stopgain

NM_005073

c.G1174T

p.G392X

23.0

-

Cirnigliaro2023 G

SLC15A1

mAGRE5145

chr13:
99358477-99358477

C

A

exonic

Maternal

stopgain

NM_005073

c.G1180T

p.E394X

16.55

Cirnigliaro2023 G

SLC15A1

SSC03535

chr13:
99379122-99379146

AAAACAGAATCCCAATATTAAAGTC

A

intronic

De novo

-

Trost2022 G

SLC15A1

mAGRE5736

chr13:
99340501-99340501

C

A

splicing

Maternal

splicing

12.63

-

Cirnigliaro2023 G

SLC15A1

SP0246574

chr13:
99361906-99361906

G

A

exonic

De novo

synonymous SNV

NM_005073

c.C987T

p.N329N

-

-

Trost2022 G

SLC15A1

2-1743-003A

chr13:
99368942-99368942

T

C

intronic

De novo

-

-

Trost2022 G

SLC15A1

1-0526-003

chr13:
99429012-99429012

A

AG

intergenic

De 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
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