Variant Results

or

Results for "MAP7"

Variant Events: 31

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

MAP7

1-0218-004

chr6:
136731870-136731870

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP7

1-0558-003

chr6:
136773262-136773262

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP7

1-0978-003

chr6:
136876027-136876027

C

T

intergenic

De novo

-

Yuen2017 G

MAP7

2-0704-003

chr6:
136877148-136877148

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MAP7

1-0978-003

chr6:
136727082-136727082

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP7

MSSNG00222-003

chr6:
136686497-136686497

T

G

intronic

De novo

-

Trost2022 G

MAP7

5-5209-003

chr6:
136784332-136784332

T

C

intronic

De novo

-

Trost2022 G

MAP7

2-1629-003

chr6:
136709166-136709166

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP7

1-1158-003

chr6:
136784642-136784642

T

G

intronic

De novo

-

Trost2022 G

MAP7

13951.p1

chr6:
136725110-136725110

G

A

intronic

De novo

-

Turner2016 G

MAP7

MSSNG00003-004

chr6:
136754829-136754829

G

A

intronic

De novo

-

Trost2022 G

MAP7

REACH000589

chr6:
136755191-136755191

C

T

intronic

De novo

-

Trost2022 G

MAP7

SP0100826

chr6:
136787954-136787954

A

G

UTR5

De novo

-

Fu2022 E

MAP7

5-0023-003

chr6:
136710993-136710993

C

CT

intronic

De novo

-

Trost2022 G

MAP7

5-5185-003

chr6:
136719922-136719922

G

T

intronic

De novo

-

Trost2022 G

MAP7

MSSNG00382-003

chr6:
136689518-136689518

T

G

intronic

De novo

-

Trost2022 G

MAP7

2-1734-003

chr6:
136798124-136798124

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP7

SP0146580

chr6:
136683828-136683828

A

AAGGCTGGAGCTGGGGCCG

exonic

De novo

nonframeshift insertion

NM_001198617
NM_001198611
NM_001198616
NM_001198608
NM_001198609
NM_001198615
NM_001198618
NM_001198619
NM_003980
NM_001198614

c.1003_1004insCGGCCCCAGCTCCAGCCT
c.1240_1241insCGGCCCCAGCTCCAGCCT
c.1174_1175insCGGCCCCAGCTCCAGCCT
c.1351_1352insCGGCCCCAGCTCCAGCCT
c.1375_1376insCGGCCCCAGCTCCAGCCT
c.1240_1241insCGGCCCCAGCTCCAGCCT
c.847_848insCGGCCCCAGCTCCAGCCT
c.847_848insCGGCCCCAGCTCCAGCCT
c.1285_1286insCGGCCCCAGCTCCAGCCT
c.1351_1352insCGGCCCCAGCTCCAGCCT

p.M335delinsTAPAPAL
p.M414delinsTAPAPAL
p.M392delinsTAPAPAL
p.M451delinsTAPAPAL
p.M459delinsTAPAPAL
p.M414delinsTAPAPAL
p.M283delinsTAPAPAL
p.M283delinsTAPAPAL
p.M429delinsTAPAPAL
p.M451delinsTAPAPAL

-

0.0026

Fu2022 E

MAP7

5-5146-004

chr6:
136705562-136705562

A

G

intronic

De novo

-

Trost2022 G

MAP7

5-0030-003

chr6:
136852922-136852923

CT

AA

intronic

De novo

-

Trost2022 G

MAP7

5-0025-003

chr6:
136852922-136852923

CT

AA

intronic

De novo

-

Trost2022 G

MAP7

5-5227-003

chr6:
136830020-136830020

C

T

intronic

De novo

-

Trost2022 G

MAP7

AU066403

chr6:
136776028-136776028

C

T

intronic

De novo

-

Yuen2017 G

MAP7

SP0079796

chr6:
136847131-136847131

A

T

UTR5

De novo

-

Trost2022 G

MAP7

3-0385-000

chr6:
136801283-136801283

C

CA

intronic

De novo

-

Trost2022 G

MAP7

REACH000435

chr6:
136828206-136828206

T

C

intronic

De novo

-

Trost2022 G

MAP7

7-0337-004

chr6:
136790454-136790454

T

C

intronic

De novo

-

Trost2022 G

MAP7

3-0091-000

chr6:
136801121-136801121

T

C

intronic

De novo

-

Trost2022 G

MAP7

1-0201-004

chr6:
136852922-136852923

CT

AA

intronic

De novo

-

Trost2022 G

MAP7

1-0972-003

chr6:
136784437-136784437

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP7

1360JS0016

chr6:
136682268-136682268

G

T

exonic

De novo

nonsynonymous SNV

NM_001198617
NM_001198611
NM_001198616
NM_001198608
NM_001198609
NM_001198615
NM_001198618
NM_001198619
NM_003980
NM_001198614

c.C1294A
c.C1531A
c.C1465A
c.C1642A
c.C1666A
c.C1531A
c.C1138A
c.C1138A
c.C1576A
c.C1642A

p.R432S
p.R511S
p.R489S
p.R548S
p.R556S
p.R511S
p.R380S
p.R380S
p.R526S
p.R548S

12.68

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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