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Results for "ERC2"

Variant Events: 101

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
ERC2     2-0210-005chr3:
55656071-55656071
GAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     1-0671-003chr3:
55650377-55650377
GAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     1-0671-003chr3:
55650196-55650196
GAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     SP0081207chr3:
56183148-56183148
CTexonicnonsynonymous SNVNM_015576c.G1162Ap.A388T16.715.443E-5Zhou2022 GE
ERC2     1-0636-003chr3:
56088684-56088684
GAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     7-0383-003chr3:
55984536-55984536
AGexonicDe novosynonymous SNVNM_015576c.T2314Cp.L772L--Trost2022 G
Zhou2022 GE
ERC2     2-1620-003chr3:
56158753-56158753
CAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     13069.p1chr3:
55719630-55719630
AAGintronicDe novo--Werling2018 G
ERC2     1-0715-003chr3:
56548208-56548208
TCintergenicDe novo--Yuen2017 G
ERC2     2-1522-003chr3:
55753844-55753844
CTintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     AU3692301chr3:
56585858-56585858
TCintergenicDe novo--Yuen2017 G
ERC2     2-0300-004chr3:
56055658-56055658
CTintronicDe novo--Yuen2017 G
ERC2     1-0022-004chr3:
56109083-56109083
GCintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     1-0541-004chr3:
55562378-55562378
GCintronicDe novo--Trost2022 G
ERC2     1-1040-003chr3:
55593166-55593166
GCintronicDe novo--Trost2022 G
ERC2     2-0006-003chr3:
56262285-56262285
GAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     MSSNG00423-003chr3:
55731515-55731515
CAintronicDe novo--Trost2022 G
ERC2     3-0029-000chr3:
55736712-55736712
CTintronicDe novo--Trost2022 G
ERC2     1005chr3:
55696687-55696687
TAintronicDe novo--Trost2022 G
ERC2     3-0270-000chr3:
55717599-55717599
CGintronicDe novo--Trost2022 G
ERC2     1-0139-005chr3:
55932584-55932584
GCintronicDe novo--Yuen2017 G
ERC2     SJD_8.3chr3:
55685375-55685375
CCTintronicDe novo--Trost2022 G
ERC2     MSSNG00016-004chr3:
55694264-55694264
TCintronicDe novo--Trost2022 G
ERC2     REACH000514chr3:
55670186-55670186
GAintronicDe novo--Trost2022 G
ERC2     7-0387-003chr3:
55670528-55670528
TCintronicDe novo--Trost2022 G
ERC2     7-0232-003chr3:
55795882-55795882
CTintronicDe novo--Trost2022 G
ERC2     AU2296301chr3:
55801621-55801621
CTintronicDe novo--Trost2022 G
ERC2     MSSNG00250-003chr3:
55775270-55775270
CTintronicDe novo--Trost2022 G
ERC2     3-0663-000chr3:
55778041-55778041
GAintronicDe novo--Trost2022 G
ERC2     4-0046-004chr3:
55754030-55754030
TTAintronicDe novo--Trost2022 G
ERC2     SJD_50.3chr3:
55763252-55763252
CAintronicDe novo--Trost2022 G
ERC2     MSSNG00415-003chr3:
55738427-55738427
GAintronicDe novo--Trost2022 G
ERC2     7-0354-004chr3:
55748721-55748721
AGintronicDe novo--Trost2022 G
ERC2     2-1408-004chr3:
55884042-55884047
GCCCTGAAACCintronicDe novo--Trost2022 G
ERC2     7-0161-003chr3:
56516766-56516766
TCintergenicDe novo--Yuen2017 G
ERC2     1-0864-003chr3:
55927581-55927582
ACAintronicDe novo--Trost2022 G
ERC2     SJD_50.3chr3:
55866547-55866547
ATintronicDe novo--Trost2022 G
ERC2     AU3997301chr3:
56455626-56455626
GAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     5-5146-003chr3:
55869136-55869136
AGintronicDe novo--Trost2022 G
ERC2     5-0097-003chr3:
55826375-55826375
CTintronicDe novo--Trost2022 G
ERC2     5-5006-003chr3:
55856517-55856517
TCintronicDe novo--Trost2022 G
ERC2     MT_59.3chr3:
55816102-55816102
CAintronicDe novo--Trost2022 G
ERC2     3-0339-000chr3:
55823537-55823537
TAintronicDe novo--Trost2022 G
ERC2     MT_59.3chr3:
56089964-56089964
AAGintronicDe novo--Trost2022 G
ERC2     5-5005-003chr3:
56094462-56094462
GAintronicDe novo--Trost2022 G
ERC2     REACH000377chr3:
56052339-56052339
AGintronicDe novo--Trost2022 G
ERC2     2-1467-003chr3:
56070755-56070755
GAintronicDe novo--Trost2022 G
ERC2     1-0882-003chr3:
56052950-56052950
GAexonicDe novononsynonymous SNVNM_015576c.C1751Tp.A584V13.842.497E-5Trost2022 G
Yuen2017 G
Zhou2022 GE
ERC2     5-1001-003chr3:
55982035-55982035
GAintronicDe novo--Trost2022 G
ERC2     1-0389-004chr3:
55890102-55890102
GTintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     1-1005-005Achr3:
55984369-55984369
CTintronicDe novo--Trost2022 G
ERC2     AU2186301chr3:
55936363-55936363
GAintronicDe novo--Trost2022 G
ERC2     1-0654-003chr3:
55945593-55945593
TGintronicDe novo--Trost2022 G
ERC2     AM04ZF-03chr3:
56338091-56338091
GCintronicDe novo--Trost2022 G
ERC2     2-1089-004chr3:
56360575-56360576
TTAAintronicDe novo--Trost2022 G
ERC2     MSSNG00466-003chr3:
56281702-56281702
AGintronicDe novo--Trost2022 G
ERC2     2-1093-005chr3:
55922711-55922711
CTintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     4-0082-004chr3:
56306692-56306692
GAintronicDe novo--Trost2022 G
ERC2     7-0309-003chr3:
56262109-56262109
CTintronicDe novo--Trost2022 G
ERC2     SJD_66.3chr3:
56276176-56276176
CTintronicDe novo--Trost2022 G
ERC2     2-1429-004chr3:
56206560-56206560
CAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     2-1505-004chr3:
56152641-56152650
AAGTTCACACCCTACGTAGintronicDe novo--Trost2022 G
ERC2     3-0093-000chr3:
56226945-56226948
AAGTAintronicDe novo--Trost2022 G
ERC2     REACH000202chr3:
56431682-56431682
TCintronicDe novo--Trost2022 G
ERC2     AU2320301chr3:
56459776-56459776
GAintronicDe novo--Trost2022 G
ERC2     2-0244-004chr3:
56394238-56394238
TCintronicDe novo--Trost2022 G
ERC2     2-0244-004chr3:
56394245-56394246
CTTTTGintronicDe novo--Trost2022 G
ERC2     2-0244-004chr3:
56394235-56394235
AGintronicDe novo--Trost2022 G
ERC2     2-0244-003chr3:
56394238-56394238
TCintronicDe novo--Trost2022 G
ERC2     4-0062-003chr3:
56370174-56370175
AACTintronicDe novo--Trost2022 G
ERC2     2-0244-004chr3:
56394231-56394231
CTintronicDe novo--Trost2022 G
ERC2     5-0111-003chr3:
56543916-56543916
CTintergenicDe novo--Yuen2017 G
ERC2     AU002405chr3:
55584773-55584773
AGintronicDe novo--Yuen2017 G
ERC2     AU3808304chr3:
56544634-56544634
AGintergenicDe novo--Yuen2017 G
ERC2     2-1723-003chr3:
56491983-56491984
CTTGintronicDe novo--Trost2022 G
ERC2     1-0285-004chr3:
56528958-56528958
CTintergenicDe novo--Yuen2017 G
ERC2     AU3846303chr3:
56526174-56526174
CTintergenicDe novo--Yuen2017 G
ERC2     MSSNG00091-003chr3:
56470495-56470495
CGintronicDe novo--Trost2022 G
ERC2     5-0009-003chr3:
56488629-56488629
ATintronicDe novo--Trost2022 G
ERC2     1-0022-003chr3:
56109083-56109083
GCintronicDe novo--Yuen2016 G
ERC2     AU3724301 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
ERC2     2-0149-005chr3:
56049056-56049056
TGintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     2-0214-004chr3:
55809045-55809046
CACintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     1-0257-003chr3:
56266051-56266051
TGintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     1-0458-005chr3:
56468640-56468640
GAexonicDe novosynonymous SNVNM_015576c.C396Tp.H132H--Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
ERC2     1-0299-003chr3:
55754024-55754024
CCTintronicDe novo--Yuen2017 G
ERC2     1-0606-003chr3:
55864933-55864933
CAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     1-0627-003chr3:
55659171-55659171
GAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     1-0404-003chr3:
55884850-55884850
CGintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     1-0985-003chr3:
56032268-56032280
TTCTCTCTCTCTCTTCTCTCTCTCintronicDe novo--Yuen2017 G
ERC2     AU3858302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
ERC2     1-0568-003chr3:
56144911-56144911
GTintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     AU4314302chr3:
56566626-56566626
CAintergenicDe novo--Yuen2017 G
ERC2     13539.p1chr3:
56495570-56495570
GTintronicDe novo--Turner2016 G
ERC2     AU2117302chr3:
56193115-56193115
CAintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     AU3777302chr3:
55685628-55685628
TCintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     AU3865301chr3:
56439836-56439836
TCintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     AU4145301chr3:
55656426-55656426
TGintronicDe novo--Trost2022 G
Yuen2017 G
ERC2     2-0028-003chr3:
55770181-55770181
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ERC2     2-1255-003chr3:
55726381-55726381
TGintronicDe novo--Yuen2016 G
Yuen2017 G
ERC2     2-0300-003chr3:
56055658-56055658
CTintronicDe novo--Trost2022 G
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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