Variant Results

or

Results for "MAST4"

Variant Events: 50

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

MAST4

2-0081-003

chr5:
66208708-66208708

A

G

intronic

De novo

-

Yuen2017 G

MAST4

1-0252-003

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

2-0135-003

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

2-1729-003

chr5:
66258078-66258078

G

A

intronic

De novo

-

Yuen2017 G

MAST4

3-0169-000

chr5:
66131481-66131481

C

T

intronic

De novo

-

Yuen2016 G

MAST4

3-0018-000

chr5:
66420248-66420263

GTCTCTCTCTCTCTCT

GTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

MAST4

AU047704

chr5:
66378704-66378704

C

G

intronic

De novo

-

Yuen2017 G

MAST4

AU047704

chr5:
66420746-66420746

C

G

intronic

De novo

-

Yuen2017 G

MAST4

1-0289-004

chr5:
66344656-66344656

C

T

intronic

De novo

-

Yuen2017 G

MAST4

AU047704

chr5:
66360279-66360279

A

G

intronic

De novo

-

Yuen2017 G

MAST4

5-0064-003

chr5:
66201952-66201952

A

G

intronic

De novo

-

Yuen2017 G

MAST4

2-0132-004

chr5:
66220283-66220283

G

GCGAT

intronic

De novo

-

Yuen2017 G

MAST4

2-1155-003

chr5:
66048172-66048172

A

G

intronic

De novo

-

Yuen2017 G

MAST4

2-1456-004

chr5:
66357619-66357619

T

TTTTCC

intronic

De novo

-

Yuen2017 G

MAST4

2-1409-003

chr5:
66425013-66425013

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAST4

2-1429-004

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

1-0285-004

chr5:
66012885-66012885

A

G

intronic

De novo

-

Yuen2017 G

MAST4

160980

chr5:
66461085-66461085

T

C

exonic

De novo

synonymous SNV

NM_001290227
NM_001297651
NM_001290226
NM_015183
NM_001164664

c.T5295C
c.T5496C
c.T5460C
c.T5511C
c.T6078C

p.Y1765Y
p.Y1832Y
p.Y1820Y
p.Y1837Y
p.Y2026Y

10.58

-

Fu2022 E

MAST4

1-0524-003

chr5:
66286282-66286282

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAST4

09C99816

chr5:
66458527-66458527

C

T

exonic

De novo

nonsynonymous SNV

NM_001290227
NM_001297651
NM_001290226
NM_015183
NM_001164664

c.C3095T
c.C3296T
c.C3260T
c.C3311T
c.C3878T

p.S1032L
p.S1099L
p.S1087L
p.S1104L
p.S1293L

31.0

8.283E-6

Fu2022 E

MAST4

1-0394-003

chr5:
66436279-66436279

G

A

intronic

De novo

-

Yuen2017 G

MAST4

2-1066-003

chr5:
66446269-66446269

T

C

intronic

De novo

-

Yuen2017 G

MAST4

421-09-112171

chr5:
65892861-65892862

AG

A

intronic

De novo

-

Satterstrom2020 E

MAST4

5-0026-003

chr5:
66471813-66471813

T

C

intergenic

De novo

-

Yuen2017 G

MAST4

14690.p1

chr5:
66462054-66462054

A

G

exonic

De novo

synonymous SNV

NM_001290227
NM_001297651
NM_001290226
NM_015183
NM_001164664

c.A6264G
c.A6465G
c.A6429G
c.A6480G
c.A7047G

p.T2088T
p.T2155T
p.T2143T
p.T2160T
p.T2349T

4.84

-

Krumm2015 E

MAST4

1-0912-003

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

AU3852301

chr5:
66012329-66012329

G

A

intronic

De novo

-

Yuen2017 G

MAST4

SP0095787

chr5:
66438152-66438152

G

A

intronic

De novo

-

Fu2022 E

MAST4

SP0048043

chr5:
66282351-66282351

A

C

UTR3

De novo

-

3.572E-5

Fu2022 E

MAST4

1-0565-004

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

2-1107-003

chr5:
66092361-66092361

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAST4

SP0068802

chr5:
66456383-66456383

C

T

exonic

De novo

nonsynonymous SNV

NM_001290227
NM_001297651
NM_001290226
NM_015183
NM_001164664

c.C2965T
c.C3166T
c.C3130T
c.C3181T
c.C3748T

p.R989W
p.R1056W
p.R1044W
p.R1061W
p.R1250W

21.4

-

Fu2022 E

MAST4

SP0143678

chr5:
66461614-66461614

C

T

exonic

De novo

nonsynonymous SNV

NM_001290227
NM_001297651
NM_001290226
NM_015183
NM_001164664

c.C5824T
c.C6025T
c.C5989T
c.C6040T
c.C6607T

p.P1942S
p.P2009S
p.P1997S
p.P2014S
p.P2203S

0.535

-

Fu2022 E

MAST4

AU2123301

chr5:
66292491-66292491

T

G

intronic

De novo

-

Yuen2017 G

MAST4

SP0073265

chr5:
66456383-66456383

C

T

exonic

De novo

nonsynonymous SNV

NM_001290227
NM_001297651
NM_001290226
NM_015183
NM_001164664

c.C2965T
c.C3166T
c.C3130T
c.C3181T
c.C3748T

p.R989W
p.R1056W
p.R1044W
p.R1061W
p.R1250W

21.4

-

Fu2022 E

MAST4

3-0163-000

chr5:
66400357-66400357

G

C

exonic

De novo

nonsynonymous SNV

NM_001297651
NM_001290226
NM_001290227
NM_015183
NM_001164664

c.G728C
c.G692C
c.G728C
c.G743C
c.G1310C

p.R243P
p.R231P
p.R243P
p.R248P
p.R437P

25.0

2.536E-5

Tammimies2015 E

MAST4

AU4033304

chr5:
66153824-66153824

A

G

intronic

De novo

-

Yuen2017 G

MAST4

2-1210-003

chr5:
66458527-66458527

C

T

exonic

De novo

nonsynonymous SNV

NM_001290227
NM_001297651
NM_001290226
NM_015183
NM_001164664

c.C3095T
c.C3296T
c.C3260T
c.C3311T
c.C3878T

p.S1032L
p.S1099L
p.S1087L
p.S1104L
p.S1293L

31.0

8.283E-6

Yuen2017 G

MAST4

1-0489-003

chr5:
66077100-66077100

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MAST4

1-0153-005

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

1-0565-003

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

2-0135-004

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

5-0137-003

chr5:
66113998-66113998

C

T

intronic

De novo

-

Yuen2017 G

MAST4

1-0467-005

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

AU2333302

chr5:
66229696-66229696

A

G

intronic

De novo

-

Yuen2017 G

MAST4

1-0153-004

chr5:
66071503-66071503

C

CAATGGTTCTTAAA

intronic

De novo

-

Yuen2017 G

MAST4

AU0146301

chr5:
66192017-66192017

A

G

intronic

De novo

-

Yuen2017 G

MAST4

AU0146301

chr5:
66207194-66207194

T

C

intronic

De novo

-

Yuen2017 G

MAST4

7-0183-003

chr5:
66382512-66382512

A

G

intronic

De novo

-

Yuen2017 G

MAST4

2-1511-003

chr5:
66146339-66146339

G

C

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