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Results for "CDH19"

Variant Events: 36

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
CDH19     iHART1412chr18:
64172288-64172289
TGTexonicMaternalframeshift deletionNM_021153c.2079delCp.A693fs--Ruzzo2019 G
CDH19     iHART3013chr18:
64212009-64212013
ATGTTAexonicPaternalframeshift deletionNM_001271028
NM_021153
c.903_906del
c.903_906del
p.Q301fs
p.Q301fs
--Ruzzo2019 G
CDH19     iHART3014chr18:
64212009-64212013
ATGTTAexonicPaternalframeshift deletionNM_001271028
NM_021153
c.903_906del
c.903_906del
p.Q301fs
p.Q301fs
--Ruzzo2019 G
CDH19     5-0110-003chr18:
64582306-64582306
CTintergenicDe novo--Yuen2017 G
CDH19     AU017704chr18:
64462550-64462550
TCintergenicDe novo--Yuen2017 G
CDH19     AU3807302chr18:
64306725-64306725
AGintergenicDe novo--Yuen2017 G
CDH19     2-1093-005chr18:
64277708-64277708
GAintergenicDe novo--Yuen2017 G
CDH19     AU060703chr18:
64390194-64390194
CAintergenicDe novo--Yuen2017 G
CDH19     1-0484-003chr18:
64712929-64712929
GAintergenicDe novo--Yuen2017 G
CDH19     iHART2390chr18:
64239362-64239364
TGATexonicPaternalframeshift deletionNM_001271028
NM_021153
c.78_79del
c.78_79del
p.S26fs
p.S26fs
--Ruzzo2019 G
CDH19     2-1094-004chr18:
64667693-64667693
TCintergenicDe novo--Yuen2017 G
CDH19     5-0111-003chr18:
64368494-64368494
ACintergenicDe novo--Yuen2017 G
CDH19     AU034904chr18:
64404099-64404099
GAintergenicDe novo--Yuen2017 G
CDH19     2-1459-003chr18:
64395246-64395246
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
CDH19     2-1626-003chr18:
64239561-64239561
GCintronicDe novo--Yuen2017 G
CDH19     AU076508chr18:
64302529-64302529
TGintergenicDe novo--Yuen2017 G
CDH19     AU4473301chr18:
64460970-64460970
TCintergenicDe novo--Yuen2017 G
CDH19     12449.p1chr18:
64333973-64333973
TCintergenicDe novo--Turner2016 G
CDH19     1-0985-003chr18:
64295787-64295787
CTintergenicDe novo--Yuen2017 G
CDH19     13393.p1chr18:
64503879-64503879
CTintergenicDe novo--Turner2016 G
CDH19     AU4211304chr18:
64519842-64519842
CTintergenicDe novo--Yuen2017 G
CDH19     2-0057-004chr18:
64426355-64426355
AGintergenicDe novo--Yuen2017 G
CDH19     A18chr18:
64283645-64283645
GAintergenicDe novo--Wu2018 G
CDH19     1-0494-003Achr18:
64228761-64228761
ATintronicDe novo--Yuen2017 G
CDH19     5-0095-003chr18:
64172818-64172818
AGintronicDe novo--Yuen2017 G
CDH19     5-0114-003chr18:
64212985-64212985
CTintronicDe novo--Yuen2017 G
CDH19     09C95083chr18:
64199907-64199907
CTintronicDe novo--Satterstrom2020 E
CDH19     AU047904chr18:
64205703-64205703
AGintronicDe novo--Yuen2017 G
CDH19     1-0161-003chr18:
64230385-64230385
GAintronicDe novo--Yuen2017 G
CDH19     7-0183-003chr18:
64600773-64600773
TAintergenicDe novo--Yuen2017 G
CDH19     AU3632301chr18:
64259065-64259065
AGintronicDe novo--Yuen2017 G
CDH19     AU1795301chr18:
64695443-64695443
TCintergenicDe novo--Yuen2017 G
CDH19     AU2139301chr18:
64663043-64663044
ATAintergenicDe novo--Yuen2017 G
CDH19     5-0018-003chr18:
64337981-64337981
AGintergenicDe novo--Yuen2017 G
CDH19     2-1508-004chr18:
64430714-64430714
GCintergenicDe novo--Yuen2017 G
CDH19     1-0494-003chr18:
64228761-64228761
ATintronicDe 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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