Variant Results

or

or

Results for "SIPA1L3"

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

SIPA1L3

MT_28

chr19:
38610142-38610142

G

A

exonic

Paternal

nonsynonymous SNV

NM_015073

c.G2488A

p.E830K

35.0

Toma2013 E

SIPA1L3

AU4032306

chr19:
38538528-38538528

G

A

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

1-0489-003

chr19:
38590877-38590883

CTTTTTT

CTTTTTTT

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

2-0273-003

chr19:
38573759-38573759

T

G

intronic

De novo

-

Yuen2017 G

SIPA1L3

A8

chr19:
38522528-38522528

T

G

intronic

De novo

-

-

Wu2018 G

SIPA1L3

2-0018-004

chr19:
38670046-38670046

C

A

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

SP0038010

chr19:
38572474-38572474

G

A

exonic

De novo

nonsynonymous SNV

NM_015073

c.G269A

p.R90Q

22.0

Fu2022 E

SIPA1L3

AU1355301

chr19:
38475729-38475729

A

G

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

5981007471794-C

chr19:
38591881-38591881

G

A

intronic

De novo

-

-

Fu2022 E

SIPA1L3

SP0100503

chr19:
38610166-38610166

A

G

exonic

De novo

nonsynonymous SNV

NM_015073

c.A2512G

p.I838V

8.511

-

Fu2022 E

SIPA1L3

AC02-1184-01

chr19:
38682742-38682742

G

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

SIPA1L3

AU047904

chr19:
38651942-38651942

C

T

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

3G089

chr19:
38597196-38597196

C

G

exonic

De novo

nonsynonymous SNV

NM_015073

c.C2049G

p.H683Q

13.02

-

Fu2022 E
Satterstrom2020 E

SIPA1L3

1-0912-003

chr19:
38450392-38450392

G

A

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

AU3761302

chr19:
38545145-38545145

C

T

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

234-05-103244

chr19:
38572752-38572752

G

T

exonic

De novo

nonsynonymous SNV

NM_015073

c.G547T

p.D183Y

13.8

-

Fu2022 E
Satterstrom2020 E

SIPA1L3

2-1325-003

chr19:
38555355-38555355

A

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SIPA1L3

1-0403-004

chr19:
38659314-38659314

A

T

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

AU075207

chr19:
38436811-38436811

T

A

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

AU3649304

chr19:
38651448-38651448

G

C

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

7-0248-003

chr19:
38578397-38578397

G

A

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

1-0402-003

chr19:
38510157-38510157

A

G

intronic

De novo

-

-

Yuen2017 G

SIPA1L3

AU4032307

chr19:
38538528-38538528

G

A

intronic

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
	More