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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     AU076705chr9:
36792555-36792555
AGintergenicDe novo--Yuen2017 G
MELK     AU3692302chr9:
36643146-36643146
GAintronicDe novo--Yuen2017 G
MELK     2-1605-003chr9:
36603934-36603934
AAGGGintronicDe novo--Yuen2017 G
MELK     1-0253-005chr9:
36603865-36603865
AGintronicDe novo--Yuen2017 G
MELK     1-0763-003chr9:
36573583-36573583
AGintronicDe novo--Yuen2017 G
MELK     5-0095-003chr9:
36615022-36615022
CTintronicDe novo--Yuen2017 G
MELK     1-0007-003chr9:
36729479-36729479
CTintergenicDe novo--Yuen2017 G
MELK     2-0270-004chr9:
36711537-36711537
AGintergenicDe novo--Yuen2017 G
MELK     iHART2502chr9:
36669354-36669354
TTCexonicPaternalframeshift insertionNM_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-5Ruzzo2019 G
MELK     iHART3196chr9:
36657362-36657362
TGsplicingPaternalsplicing8.5968.476E-6Ruzzo2019 G
MELK     iHART2989chr9:
36677168-36677169
AGAexonicPaternalframeshift deletionNM_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-4Ruzzo2019 G
MELK     1-0593-003chr9:
36661601-36661601
ACintronicDe novo--Yuen2017 G
MELK     iHART2988chr9:
36677168-36677169
AGAexonicPaternalframeshift deletionNM_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-4Ruzzo2019 G
MELK     2-1280-003chr9:
36788081-36788081
CGintergenicDe novo--Yuen2017 G
MELK     Cukier2014:7590chr9:
36583642-36583642
AGexonicUnknownnonsynonymous SNVNM_001256685
NM_001256687
NM_001256688
NM_014791
c.A77G
c.A77G
c.A77G
c.A77G
p.K26R
p.K26R
p.K26R
p.K26R
27.40.005Cukier2014 E
MELK     2-1605-004chr9:
36603934-36603934
AAGGGintronicDe novo--Yuen2017 G
MELK     2-1169-004chr9:
36758650-36758650
TAintergenicDe novo--Yuen2017 G
MELK     AU4315302chr9:
36585519-36585519
GCintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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