Variant Results

or

Results for "AGRN"

Variant Events: 26

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

AGRN

PN400495

chr1:
982302-982302

C

A

exonic

Unknown

nonsynonymous SNV

NM_198576

c.C3353A

p.T1118K

25.6

0.0021

Leblond2019 E

AGRN

PN400279

chr1:
980810-980810

C

T

exonic

Unknown

nonsynonymous SNV

NM_198576

c.C2443T

p.R815C

16.83

8.563E-6

Leblond2019 E

AGRN

13143.p1

chr1:
989900-989900

G

A

exonic

De novo

synonymous SNV

NM_198576

c.G5949A

p.T1983T

-

Wilfert2021 G

AGRN

08C78500

chr1:
983257-983257

G

A

exonic

De novo

nonsynonymous SNV

NM_198576

c.G3733A

p.V1245M

10.93

2.719E-5

Fu2022 E
Satterstrom2020 E

AGRN

DEASD_1021_001

chr1:
983595-983595

C

T

exonic

De novo

nonsynonymous SNV

NM_198576

c.C3955T

p.P1319S

2.839

-

Fu2022 E
Satterstrom2020 E

AGRN

SP0106850

chr1:
978746-978746

C

A

exonic

De novo

nonsynonymous SNV

NM_198576

c.C1512A

p.S504R

14.36

-

Fu2022 E

AGRN

SP0145564

chr1:
976257-976257

T

G

exonic

De novo

nonsynonymous SNV

NM_198576

c.T724G

p.C242G

16.47

-

Fu2022 E

AGRN

SP0095743

chr1:
983404-983404

C

T

exonic

De novo

nonsynonymous SNV

NM_198576

c.C3764T

p.A1255V

9.168

5.0E-4

Fu2022 E

AGRN

SP0024272

chr1:
986884-986884

G

A

exonic

De novo

nonsynonymous SNV

NM_198576

c.G5422A

p.V1808M

7.791

-

Fu2022 E

AGRN

08C74054

chr1:
985272-985272

C

T

intronic

De novo

-

8.736E-6

Satterstrom2020 E

AGRN

iHART2565

chr1:
977058-977105

CGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGG

C

exonic

Maternal

nonframeshift deletion

NM_198576

c.1154_1177del

p.385_393del

-

1.0E-4

Ruzzo2019 G

AGRN

5-0114-003

chr1:
990815-990815

C

T

UTR3

De novo

-

Yuen2017 G

AGRN

SP0031776

chr1:
984172-984172

A

G

intronic

De novo

-

Fu2022 E

AGRN

iHART2564

chr1:
977058-977105

CGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGG

C

exonic

Maternal

nonframeshift deletion

NM_198576

c.1154_1177del

p.385_393del

-

1.0E-4

Ruzzo2019 G

AGRN

SP0030765

chr1:
982835-982835

G

A

splicing

De novo

splicing

8.842

-

Feliciano2019 E
Fu2022 E

AGRN

SP0120214

chr1:
969635-969635

G

A

intronic

De novo

-

Fu2022 E

AGRN

SP0113349

chr1:
969511-969511

C

G

intronic

De novo

-

Fu2022 E

AGRN

SP0039245

chr1:
981657-981657

C

T

intronic

De novo

-

1.0E-4

Fu2022 E

AGRN

SP0119770

chr1:
979693-979693

C

G

intronic

De novo

-

Fu2022 E

AGRN

SSC05601

chr1:
976109-976109

G

T

exonic

De novo

synonymous SNV

NM_198576

c.G576T

p.R192R

-

Fu2022 E

AGRN

ASC_11160-1

chr1:
976241-976242

GC

G

exonic

De novo

frameshift deletion

NM_198576

c.709delC

p.L237fs

-

Fu2022 E

AGRN

80001100711

chr1:
970708-970708

A

G

intronic

De novo

-

Fu2022 E

AGRN

JASD_Fam0025

chr1:
980641-980649

CCTGGCTGG

C

exonic

De novo

frameshift deletion

NM_198576

c.2356_2363del

p.L786fs

-

Takata2018 E

AGRN

JASD_Fam0016

chr1:
955717-955717

C

T

exonic

De novo

synonymous SNV

NM_198576

c.C165T

p.L55L

-

Takata2018 E

AGRN

AU025704

chr1:
965824-965830

CTGTGTG

CTGTG

intronic

De novo

-

Yuen2017 G

AGRN

2-1313-003

chr1:
981205-981205

T

C

exonic

De novo

nonsynonymous SNV

NM_198576

c.T2629C

p.C877R

19.31

-

Yuen2016 G
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
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