Variant Results

or

Results for "MAP1B"

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

MAP1B

09C79752

chr5:
71490638-71490638

C

T

exonic

De novo

stopgain

NM_005909

c.C1456T

p.R486X

25.2

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MAP1B

mAGRE4852

chr5:
71495353-71495353

T

G

exonic

Maternal

stopgain

NM_005909

c.T6171G

p.Y2057X

45.0

8.247E-6

Cirnigliaro2023 G

MAP1B

SP0015228

chr5:
71500888-71500889

AT

A

intronic

De novo

-

0.013

Trost2022 G

MAP1B

mAGRE4851

chr5:
71495353-71495353

T

G

exonic

Maternal

stopgain

NM_005909

c.T6171G

p.Y2057X

45.0

8.247E-6

Cirnigliaro2023 G

MAP1B

EGAN00001100925

chr5:
71479684-71479684

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

MAP1B

MT_21.3

chr5:
71426886-71426886

C

T

intronic

De novo

-

Trost2022 G

MAP1B

4-0037-003

chr5:
71465650-71465650

G

C

intronic

De novo

-

Trost2022 G

MAP1B

2-0007-003

chr5:
71450901-71450901

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP1B

13896.p1

chr5:
71495057-71495057

A

G

exonic

nonsynonymous SNV

NM_005909

c.A5875G

p.I1959V

5.289

-

Zhou2022 GE

MAP1B

AU3175302

chr5:
71483027-71483028

CA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP1B

SP0015016

chr5:
71491133-71491133

G

T

exonic

De novo

stopgain

NM_005909

c.G1951T

p.E651X

23.5

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

MAP1B

MSSNG00015-004

chr5:
71409251-71409251

T

C

intronic

De novo

-

Trost2022 G

MAP1B

09C81948

chr5:
71491094-71491094

G

T

exonic

De novo

nonsynonymous SNV

NM_005909

c.G1912T

p.V638L

8.474

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MAP1B

72-1047

chr5:
71493249-71493249

C

T

exonic

Inherited

nonsynonymous SNV

NM_005909

c.C4067T

p.P1356L

12.11

-

Patowary2019 E

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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