or
or
Exact

Results for "MECOM"

Variant Events: 38

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
MECOM     AU2089301chr3:
169352929-169352929
CTintronicDe novo--Yuen2017 G
MECOM     AU1795302chr3:
168804263-168804263
TAintronicDe novo--Yuen2017 G
MECOM     1-0277-003chr3:
168875649-168875649
ACintronicDe novo--Yuen2016 G
Yuen2017 G
MECOM     7-0219-003chr3:
169199053-169199053
TGintronicDe novo--Yuen2017 G
MECOM     2-1502-003chr3:
168901163-168901163
TCintronicDe novo--Yuen2017 G
MECOM     AU046904chr3:
168974513-168974513
GAintronicDe novo--Yuen2017 G
MECOM     09C86141chr3:
168819995-168819995
AGexonicDe novononsynonymous SNVNM_001163999
NM_001164000
NM_001105078
NM_001205194
NM_005241
NM_001105077
NM_004991
c.T2036C
c.T2033C
c.T2060C
c.T2060C
c.T2060C
c.T2255C
c.T2624C
p.M679T
p.M678T
p.M687T
p.M687T
p.M687T
p.M752T
p.M875T
17.25-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MECOM     AU4150301chr3:
169272630-169272631
TATintronicDe novo--Yuen2017 G
MECOM     08C78450chr3:
168838891-168838891
CTexonicDe novononsynonymous SNVNM_001105078
NM_001163999
NM_001164000
NM_001205194
NM_005241
NM_001105077
NM_004991
c.G521A
c.G524A
c.G521A
c.G521A
c.G521A
c.G716A
c.G1085A
p.G174D
p.G175D
p.G174D
p.G174D
p.G174D
p.G239D
p.G362D
22.5-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MECOM     AU4308302chr3:
169302167-169302167
CAintronicDe novo--Yuen2017 G
MECOM     1-0715-003chr3:
169253908-169253908
TCintronicDe novo--Yuen2017 G
MECOM     1-0292-005chr3:
169080781-169080781
GTintronicDe novo--Yuen2017 G
MECOM     2-0098-003chr3:
169357855-169357855
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MECOM     1-0201-005chr3:
169189573-169189573
TGintronicDe novo--Yuen2017 G
MECOM     1-0155-003chr3:
169382291-169382291
GAupstreamDe novo--Yuen2017 G
MECOM     AU009805chr3:
168958830-168958830
TGintronicDe novo--Yuen2017 G
MECOM     1-0417-003chr3:
168920467-168920467
CTintronicDe novo--Yuen2017 G
MECOM     13948.p1chr3:
169421321-169421321
GCintergenicDe novo--Werling2018 G
MECOM     AU4487302chr3:
168895853-168895853
CTintronicDe novo--Yuen2017 G
MECOM     2-0013-003chr3:
168933045-168933045
TTAintronicDe novo--Yuen2017 G
MECOM     7-0119-003chr3:
168989188-168989188
GAintronicDe novo--Yuen2017 G
MECOM     AU054304chr3:
169026010-169026010
AGintronicDe novo--Yuen2017 G
MECOM     AU2756306chr3:
169082583-169082583
TCintronicDe novo--Yuen2017 G
MECOM     5-0017-003chr3:
169137637-169137637
ACintronicDe novo--Yuen2017 G
MECOM     12529.p1chr3:
169359500-169359500
GAintronicDe novo--Turner2016 G
MECOM     AU024105chr3:
169121676-169121676
AGintronicDe novo--Yuen2017 G
MECOM     1-0585-003chr3:
168813091-168813098
CTAGTTAGCTAGintronicDe novo--Yuen2017 G
MECOM     AU4410302chr3:
169405226-169405247
CTGTTTGTTTGTTTGTTTGTTTCTGTTTGTTTGTTTGTTTGTTTGTTTintergenicDe novo--Yuen2017 G
MECOM     2-1501-003chr3:
169201748-169201751
ATTCATTCCATCTTCintronicDe novo--Yuen2017 G
MECOM     7-0249-003chr3:
169344271-169344286
CCTCTCTCTCTCTCTCCCTCTCTCTCTCTCintronicDe novo--Yuen2017 G
MECOM     AU3874301chr3:
169201748-169201751
ATTCATTCCATCTTCintronicDe novo--Yuen2017 G
MECOM     2-1170-003chr3:
169458687-169458687
GAintergenicDe novo--Yuen2017 G
MECOM     2-1562-004chr3:
169022622-169022622
GGACAAAACATGCCTAAintronicDe novo--Yuen2017 G
MECOM     AU2410302chr3:
168808970-168808973
ATTTATTintronicDe novo--Yuen2017 G
MECOM     2-1461-003chr3:
169443225-169443225
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
MECOM     13403.p1chr3:
169025065-169025065
CTintronicDe novo--Werling2018 G
MECOM     1-0559-004chr3:
168805691-168805691
ACintronicDe novo--Yuen2017 G
MECOM     AU053503chr3:
169131032-169131032
CTintronicDe 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 notesView
More