Variant Results

or

Results for "MELK"

Variant Events: 18

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

MELK

AU076705

chr9:
36792555-36792555

A

G

intergenic

De novo

-

Yuen2017 G

MELK

AU3692302

chr9:
36643146-36643146

G

A

intronic

De novo

-

Yuen2017 G

MELK

2-1605-003

chr9:
36603934-36603934

A

AGGG

intronic

De novo

-

Yuen2017 G

MELK

1-0253-005

chr9:
36603865-36603865

A

G

intronic

De novo

-

Yuen2017 G

MELK

1-0763-003

chr9:
36573583-36573583

A

G

intronic

De novo

-

Yuen2017 G

MELK

5-0095-003

chr9:
36615022-36615022

C

T

intronic

De novo

-

Yuen2017 G

MELK

1-0007-003

chr9:
36729479-36729479

C

T

intergenic

De novo

-

Yuen2017 G

MELK

2-0270-004

chr9:
36711537-36711537

A

G

intergenic

De novo

-

Yuen2017 G

MELK

iHART2502

chr9:
36669354-36669354

T

TC

exonic

Paternal

frameshift insertion

NM_001256692
NM_001256688
NM_001256690
NM_001256691
NM_001256693
NM_001256685
NM_001256687
NM_001256689
NM_014791

c.1064dupC
c.1244dupC
c.1244dupC
c.1217dupC
c.875dupC
c.1334dupC
c.1313dupC
c.1361dupC
c.1457dupC

p.S355fs
p.S415fs
p.S415fs
p.S406fs
p.S292fs
p.S445fs
p.S438fs
p.S454fs
p.S486fs

-

7.441E-5

Ruzzo2019 G

MELK

iHART3196

chr9:
36657362-36657362

T

G

splicing

Paternal

splicing

8.596

8.476E-6

Ruzzo2019 G

MELK

iHART2989

chr9:
36677168-36677169

AG

A

exonic

Paternal

frameshift deletion

NM_001256692
NM_001256688
NM_001256690
NM_001256691
NM_001256693
NM_001256685
NM_001256687
NM_001256689
NM_014791

c.1398delG
c.1578delG
c.1578delG
c.1551delG
c.1209delG
c.1668delG
c.1647delG
c.1695delG
c.1791delG

p.K466fs
p.K526fs
p.K526fs
p.K517fs
p.K403fs
p.K556fs
p.K549fs
p.K565fs
p.K597fs

-

1.0E-4

Ruzzo2019 G

MELK

1-0593-003

chr9:
36661601-36661601

A

C

intronic

De novo

-

Yuen2017 G

MELK

iHART2988

chr9:
36677168-36677169

AG

A

exonic

Paternal

frameshift deletion

NM_001256692
NM_001256688
NM_001256690
NM_001256691
NM_001256693
NM_001256685
NM_001256687
NM_001256689
NM_014791

c.1398delG
c.1578delG
c.1578delG
c.1551delG
c.1209delG
c.1668delG
c.1647delG
c.1695delG
c.1791delG

p.K466fs
p.K526fs
p.K526fs
p.K517fs
p.K403fs
p.K556fs
p.K549fs
p.K565fs
p.K597fs

-

1.0E-4

Ruzzo2019 G

MELK

2-1280-003

chr9:
36788081-36788081

C

G

intergenic

De novo

-

Yuen2017 G

MELK

Cukier2014:7590

chr9:
36583642-36583642

A

G

exonic

Unknown

nonsynonymous SNV

NM_001256685
NM_001256687
NM_001256688
NM_014791

c.A77G
c.A77G
c.A77G
c.A77G

p.K26R
p.K26R
p.K26R
p.K26R

27.4

0.005

Cukier2014 E

MELK

2-1605-004

chr9:
36603934-36603934

A

AGGG

intronic

De novo

-

Yuen2017 G

MELK

2-1169-004

chr9:
36758650-36758650

T

A

intergenic

De novo

-

Yuen2017 G

MELK

AU4315302

chr9:
36585519-36585519

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
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