or
or
Exact

Results for "THSD4"

Variant Events: 39

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
THSD4     AU2458303chr15:
71750833-71750833
TCintronicDe novo--Yuen2017 G
THSD4     2-1337-003chr15:
71495324-71495324
CTintronicDe novo--Yuen2016 G
Yuen2017 G
THSD4     AU3724302chr15:
71664984-71664984
GAintronicDe novo--Yuen2017 G
THSD4     SSC10463chr15:
72050341-72050341
CTexonicDe novononsynonymous SNVNM_001286429
NM_024817
c.C1436T
c.C2516T
p.P479L
p.P839L
32.0-Lim2017 E
THSD4     7-0194-003chr15:
71547872-71547872
CAintronicDe novo--Yuen2017 G
THSD4     DEASD_0204_001chr15:
72037418-72037418
CTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
THSD4     AU066403chr15:
72022870-72022870
CTintronicDe novo--Yuen2017 G
THSD4     1-0674-003chr15:
71845464-71845464
GAintronicDe novo--Yuen2017 G
THSD4     14160.p1chr15:
72050341-72050341
CTexonicDe novononsynonymous SNVNM_001286429
NM_024817
c.C1436T
c.C2516T
p.P479L
p.P839L
32.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
THSD4     1-0359-003chr15:
71577355-71577362
GTGTTGTTGTGTTintronicDe novo--Yuen2017 G
THSD4     AU3768302chr15:
71449549-71449549
GAintronicDe novo--Yuen2017 G
THSD4     2-0135-004chr15:
71562503-71562504
CACintronicDe novo--Yuen2017 G
THSD4     1-0022-004chr15:
71661736-71661736
ATintronicDe novo--Yuen2017 G
THSD4     1-0404-003chr15:
71961176-71961176
TGintronicDe novo--Yuen2017 G
THSD4     AU3703302chr15:
72064187-72064187
ACintronicDe novo--Yuen2017 G
THSD4     1-0160-004chr15:
71491916-71491916
TTGintronicDe novo--Yuen2017 G
THSD4     2-1408-004chr15:
71657735-71657735
GAintronicDe novo--Yuen2017 G
THSD4     2-1352-003chr15:
71915643-71915643
CTintronicDe novo--Yuen2016 G
Yuen2017 G
THSD4     1-0028-003chr15:
71850989-71850989
TCintronicDe novo--Yuen2017 G
THSD4     2-1338-003chr15:
71573057-71573064
TTCTGTCTTTCTintronicDe novo--Yuen2017 G
THSD4     1-0408-003chr15:
71944619-71944619
GAintronicDe novo--Yuen2016 G
Yuen2017 G
THSD4     AU3900301chr15:
71491826-71491845
GGGTGTGTGTGGTGTGTGTGGGGTGTGTGTGintronicDe novo--Yuen2017 G
THSD4     AU4264302chr15:
71455568-71455568
GTintronicDe novo--Yuen2017 G
THSD4     2-0307-003chr15:
71777350-71777350
GAintronicDe novo--Yuen2017 G
THSD4     1-0067-005chr15:
71569088-71569088
GGATGCATAintronicDe novo--Yuen2017 G
THSD4     1-0296-004chr15:
71576526-71576526
CGintronicDe novo--Yuen2017 G
THSD4     AU073006chr15:
71756304-71756304
CTintronicDe novo--Yuen2017 G
THSD4     AU2777302chr15:
72015304-72015304
CGintronicDe novo--Yuen2017 G
THSD4     1-0259-003chr15:
71818677-71818677
CTintronicDe novo--Yuen2017 G
THSD4     Shi2013:2chr15:
71507377-71507377
CTexonicInheritednonsynonymous SNVNM_024817c.C103Tp.P35S15.659.0E-4Shi2013 G
THSD4     Shi2013:1chr15:
71507377-71507377
CTexonicInheritednonsynonymous SNVNM_024817c.C103Tp.P35S15.659.0E-4Shi2013 G
THSD4     5-0140-003chr15:
71670310-71670310
CAintronicDe novo--Yuen2017 G
THSD4     5-0140-003chr15:
71672027-71672027
GAintronicDe novo--Yuen2017 G
THSD4     1-0099-003chr15:
71588100-71588100
AGintronicDe novo--Yuen2017 G
THSD4     2-1451-004chr15:
72001301-72001301
CTintronicDe novo--Yuen2017 G
THSD4     iHART1705chr15:
72030126-72030127
ACAexonicPaternalframeshift deletionNM_001286429
NM_024817
c.607delC
c.1687delC
p.Q203fs
p.Q563fs
--Ruzzo2019 G
THSD4     1-0067-004chr15:
71569088-71569088
GGATGCATAintronicDe novo--Yuen2017 G
THSD4     7-0001-003chr15:
71926066-71926066
CTintronicDe novo--Yuen2017 G
THSD4     1-0246-004chr15:
71723878-71723878
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