Variant Results

or

Results for "SLITRK5"

Variant Events: 14

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

SLITRK5

AU0239-0203

chr13:
88329077-88329077

T

C

exonic

De novo

synonymous SNV

NM_015567

c.T1434C

p.Y478Y

-

8.247E-6

Fu2022 E

SLITRK5

11391_p1

chr13:
88327867-88327867

A

G

exonic

De novo

nonsynonymous SNV

NM_015567

c.A224G

p.E75G

17.17

-

Fu2022 E

SLITRK5

68495

chr13:
88327810-88327810

A

G

exonic

De novo

nonsynonymous SNV

NM_015567

c.A167G

p.E56G

16.85

-

Fu2022 E

SLITRK5

SSC08002

chr13:
88330268-88330268

G

A

exonic

De novo

synonymous SNV

NM_015567

c.G2625A

p.P875P

-

8.285E-6

Fu2022 E
Lim2017 E

SLITRK5

1-0079-008

chr13:
88438128-88438128

G

T

intergenic

De novo

-

Yuen2017 G

SLITRK5

Lim2017:68495

chr13:
88327810-88327810

A

G

exonic

De novo

nonsynonymous SNV

NM_015567

c.A167G

p.E56G

16.85

-

Lim2017 E

SLITRK5

11004.p1

chr13:
88327810-88327810

A

G

exonic

De novo

nonsynonymous SNV

NM_015567

c.A167G

p.E56G

16.85

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

SLITRK5

11391.p1

chr13:
88327867-88327867

A

G

exonic

De novo

nonsynonymous SNV

NM_015567

c.A224G

p.E75G

17.17

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

SLITRK5

A4

chr13:
88326906-88326906

A

T

intronic

De novo

-

Wu2018 G

SLITRK5

13502.p1

chr13:
88330268-88330268

G

A

exonic

De novo

synonymous SNV

NM_015567

c.G2625A

p.P875P

-

8.285E-6

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SLITRK5

3-0027-000

chr13:
88329338-88329338

G

A

exonic

Maternal

stopgain

NM_015567

c.G1695A

p.W565X

38.0

-

Tammimies2015 E

SLITRK5

1-0142-005

chr13:
88373591-88373591

T

C

intergenic

De novo

-

Yuen2017 G

SLITRK5

2-0102-003

chr13:
88444697-88444697

T

C

intergenic

De novo

-

Yuen2017 G

SLITRK5

2-1160-003

chr13:
88349242-88349257

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

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
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