Variant Results

or

or

Results for "RGSL1"

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

RGSL1

AU034903

chr1:
182470943-182470943

C

T

intronic

De novo

-

-

Yuen2017 G

RGSL1

AU4069302

chr1:
182445094-182445094

C

T

intronic

De novo

-

-

Yuen2017 G

RGSL1

1-0441-003

chr1:
182529397-182529397

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

RGSL1

AU4013302

chr1:
182505572-182505572

G

A

intronic

De novo

-

-

Yuen2017 G

RGSL1

1-0158-003

chr1:
182420817-182420817

G

C

intronic

De novo

-

-

Yuen2017 G

RGSL1

iHART1075

chr1:
182517557-182517558

CT

C

exonic

Paternal

frameshift deletion

NM_001137669

c.2776delT

p.F926fs

-

-

Ruzzo2019 G

RGSL1

mAGRE1076

chr1:
182517557-182517558

CT

C

exonic

Paternal

frameshift deletion

NM_001137669

c.2776delT

p.F926fs

-

-

Cirnigliaro2023 G

RGSL1

AU3399303

chr1:
182465242-182465242

G

A

intronic

De novo

-

-

Yuen2017 G

RGSL1

111313

chr1:
182443325-182443325

C

T

exonic

nonsynonymous SNV

NM_001137669

c.C1079T

p.A360V

-

-

Woodbury-Smith2022 E

RGSL1

SP0077034

chr1:
182441526-182441526

C

T

intronic

De novo

-

-

Fu2022 E
Zhou2022 GE

RGSL1

mAGRE1075

chr1:
182517557-182517558

CT

C

exonic

Paternal

frameshift deletion

NM_001137669

c.2776delT

p.F926fs

-

-

Cirnigliaro2023 G

RGSL1

iHART1076

chr1:
182517557-182517558

CT

C

exonic

Paternal

frameshift deletion

NM_001137669

c.2776delT

p.F926fs

-

-

Ruzzo2019 G

RGSL1

SP0135498

chr1:
182443660-182443660

C

T

exonic

De novo

stopgain

NM_001137669

c.C1414T

p.Q472X

-

-

Fu2022 E
Zhou2022 GE

RGSL1

AU4234303

chr1:
182534336-182534336

A

C

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
	More