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Results for "THSD7A"

Variant Events: 48

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
THSD7A     1-1000-003chr7:
11957936-11957936
CGintergenicDe novo--Yuen2017 G
THSD7A     7-0256-003chr7:
12118269-12118269
GTintergenicDe novo--Yuen2017 G
THSD7A     7-0273-003chr7:
12037433-12037433
TCintergenicDe novo--Yuen2017 G
THSD7A     2-1725-003chr7:
12033788-12033788
TAintergenicDe novo--Yuen2017 G
THSD7A     1-0469-005chr7:
11905031-11905031
AGintergenicDe novo--Yuen2017 G
THSD7A     1-0175-003chr7:
12128322-12128322
CTintergenicDe novo--Yuen2017 G
THSD7A     13864.p1chr7:
11676395-11676395
AGexonicMosaic Mat.synonymous SNVNM_015204c.T384Cp.P128P-1.0E-4Dou2017 E
THSD7A     11341.p1chr7:
11619048-11619048
ACintronicDe novo--Turner2016 G
THSD7A     1-0010-003chr7:
12229746-12229746
GAintergenicDe novo--Yuen2017 G
THSD7A     2-1066-003chr7:
11741240-11741240
TAintronicDe novo--Yuen2017 G
THSD7A     2-1350-004chr7:
11511285-11511285
GAintronicDe novo--Yuen2017 G
THSD7A     11C119372chr7:
11633102-11633102
CAexonicDe novononsynonymous SNVNM_015204c.G1050Tp.M350I10.38.29E-6Satterstrom2020 E
THSD7A     1-0107-003chr7:
12138146-12138147
ATAintergenicDe novo--Yuen2016 G
Yuen2017 G
THSD7A     AU045514chr7:
12006347-12006347
AGintergenicDe novo--Yuen2017 G
THSD7A     13042.p1chr7:
11487022-11487022
GAexonicDe novostopgainNM_015204c.C2635Tp.Q879X42.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
THSD7A     2-1383-003chr7:
12179229-12179229
TCintergenicDe novo--Yuen2017 G
THSD7A     AU3371302chr7:
12245958-12245958
AGintergenicDe novo--Yuen2017 G
THSD7A     SSC06614chr7:
11487022-11487022
GAexonicDe novostopgainNM_015204c.C2635Tp.Q879X42.0-Lim2017 E
THSD7A     2-1380-003chr7:
12128965-12128967
CAGCintergenicDe novo--Yuen2016 G
THSD7A     AU009904chr7:
12100556-12100556
AGintergenicDe novo--Yuen2017 G
THSD7A     5-0015-004chr7:
12002463-12002463
TCintergenicDe novo--Yuen2017 G
THSD7A     2-0305-004chr7:
12108077-12108077
TCintergenicDe novo--Yuen2017 G
THSD7A     1-0226-005chr7:
11433020-11433020
TCintronicDe novo--Yuen2017 G
THSD7A     2-0098-003chr7:
12201428-12201428
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
THSD7A     2-1507-003chr7:
11610984-11610984
GAintronicDe novo--Yuen2017 G
THSD7A     AU2951302chr7:
11918907-11918907
AGintergenicDe novo--Yuen2017 G
THSD7A     2-1399-003chr7:
11930698-11930698
AGintergenicDe novo--Yuen2017 G
THSD7A     5-0077-003chr7:
11450340-11450340
CCTGTTintronicDe novo--Yuen2017 G
THSD7A     2-1295-003chr7:
12151106-12151106
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
THSD7A     AU1725306chr7:
12136311-12136311
TCintergenicDe novo--Yuen2017 G
THSD7A     1-0511-003chr7:
11831913-11831913
TAintronicDe novo--Yuen2017 G
THSD7A     3-0434-000chr7:
11942768-11942768
CTintergenicDe novo--Yuen2016 G
THSD7A     2-1594-003chr7:
11559581-11559581
TAintronicDe novo--Yuen2017 G
THSD7A     1-0175-004chr7:
12128322-12128322
CTintergenicDe novo--Yuen2017 G
THSD7A     2-1154-003chr7:
11626054-11626054
CGintronicDe novo--Yuen2016 G
Yuen2017 G
THSD7A     7-0080-003chr7:
12056068-12056068
CAintergenicDe novo--Yuen2017 G
THSD7A     1-0075-003chr7:
11816829-11816829
CTintronicDe novo--Yuen2017 G
THSD7A     AU031003chr7:
11593272-11593274
GTTGTintronicDe novo--Yuen2017 G
THSD7A     2-1318-004chr7:
11518308-11518308
TGintronicDe novo--Yuen2017 G
THSD7A     2-1506-003chr7:
12046477-12046490
AATATATATATATAAATATATATATAintergenicDe novo--Yuen2017 G
THSD7A     AU4159302chr7:
11605788-11605793
CATTATCATintronicDe novo--Yuen2017 G
THSD7A     13558.p1chr7:
11485770-11485770
GAexonicMosaicsynonymous SNVNM_015204c.C2982Tp.C994C--Dou2017 E
Krupp2017 E
THSD7A     AU074503chr7:
11661244-11661244
CAintronicDe novo--Yuen2017 G
THSD7A     1-0524-003chr7:
11953511-11953511
AGintergenicDe novo--Yuen2017 G
THSD7A     1-0469-003chr7:
11822290-11822290
GTintronicDe novo--Yuen2017 G
THSD7A     2-1646-003chr7:
11766042-11766042
GTintronicDe novo--Yuen2017 G
THSD7A     EGAN00001101085chr7:
11521470-11521470
CAexonicDe novosynonymous SNVNM_015204c.G1962Tp.T654T--Satterstrom2020 E
THSD7A     2-1402-003chr7:
11656860-11656860
TCintronicDe 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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