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Results for "STARD13"

Variant Events: 63

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
STARD13     AU066104chr13:
34255184-34255184
GAintergenicDe novo--Yuen2017 G
STARD13     REACH000316chr13:
33891070-33891070
AGintronicDe novo--Trost2022 G
STARD13     MSSNG00443-003chr13:
33893423-33893423
AGintronicDe novo--Trost2022 G
STARD13     1-0951-003chr13:
33818499-33818499
GTintronicDe novo--Trost2022 G
STARD13     2-1715-003chr13:
33848044-33848044
CTintronicDe novo--Trost2022 G
STARD13     7-0129-003chr13:
33783557-33783557
GAintronicDe novo--Trost2022 G
STARD13     1-0569-003chr13:
33814808-33814808
TGintronicDe novo--Trost2022 G
STARD13     AU3913302chr13:
33929996-33929996
AGintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     MSSNG00030-003chr13:
33754395-33754395
CGintronicDe novo--Trost2022 G
STARD13     REACH000173chr13:
33760924-33760926
ACCAintronicDe novo--Trost2022 G
STARD13     7-0202-003chr13:
33989826-33989829
AAACTTintronicDe novo--Trost2022 G
STARD13     3-0871-000chr13:
34028351-34028351
GAintronicDe novo--Trost2022 G
STARD13     5-0077-003chr13:
34239783-34239783
CTintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     AU2287301chr13:
33949656-33949656
CTintronicDe novo--Trost2022 G
STARD13     MSSNG00038-004chr13:
33957507-33957507
CAintronicDe novo--Trost2022 G
STARD13     1-1195-003chr13:
33918002-33918002
CTintronicDe novo--Trost2022 G
STARD13     SJD_8.3chr13:
33938093-33938093
AGintronicDe novo--Trost2022 G
STARD13     7-0454-003chr13:
33899682-33899682
AGintronicDe novo--Trost2022 G
STARD13     SJD_3.3chr13:
33902327-33902327
TCintronicDe novo--Trost2022 G
STARD13     1-0756-005chr13:
34224371-34224373
AGCCGGintronicDe novo--Trost2022 G
STARD13     SJD_44.3chr13:
34229076-34229076
GAintronicDe novo--Trost2022 G
STARD13     MCD-020-4chr13:
33703702-33703702
GAexonicBoth parentsnonsynonymous SNVNM_001243466
NM_001243474
NM_052851
NM_178006
NM_178007
NM_001243476
c.C1088T
c.C758T
c.C758T
c.C1112T
c.C1088T
c.C1007T
p.A363V
p.A253V
p.A253V
p.A371V
p.A363V
p.A336V
20.48.0E-4Tuncay2023 G
STARD13     3-0322-000chr13:
34193922-34193922
CTintronicDe novo--Trost2022 G
STARD13     1-0756-005chr13:
34224367-34224367
AGintronicDe novo--Trost2022 G
STARD13     1-0568-003chr13:
34039393-34039393
AAGTintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     2-1294-003chr13:
34171492-34171492
CTintronicDe novo--Trost2022 G
STARD13     7-0288-004chr13:
34175909-34175909
CTintronicDe novo--Trost2022 G
STARD13     3-0646-000chr13:
34062203-34062203
GAintronicDe novo--Trost2022 G
STARD13     1-1054-003chr13:
34147257-34147257
CTintronicDe novo--Trost2022 G
STARD13     2-0110-003chr13:
33934655-33934655
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
STARD13     MSSNG00172-003chr13:
34241830-34241830
CTintronicDe novo--Trost2022 G
STARD13     7-0331-003chr13:
34246551-34246551
TCintronicDe novo--Trost2022 G
STARD13     AU4176302chr13:
33979434-33979434
GAintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     3-0475-000chr13:
34230753-34230753
TCintronicDe novo--Trost2022 G
STARD13     AU4176302chr13:
33987556-33987556
AGintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     MSSNG00257-003chr13:
34241340-34241340
GAintronicDe novo--Trost2022 G
STARD13     5-0003-004chr13:
33821037-33821037
TGintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     AU2248302chr13:
34047490-34047490
AGintronicDe novo--Yuen2017 G
STARD13     AU003406chr13:
34321844-34321844
CTintergenicDe novo--Yuen2017 G
STARD13     AU2793301chr13:
34370256-34370256
GAintergenicDe novo--Yuen2017 G
STARD13     AU4215302chr13:
34383386-34383386
GAintergenicDe novo--Yuen2017 G
STARD13     1-0458-004chr13:
33678613-33678613
TCUTR3De novo--Trost2022 G
Yuen2017 G
STARD13     1-0452-003chr13:
33996189-33996189
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
STARD13     1-0511-003chr13:
34310746-34310746
GAintergenicDe novo--Yuen2017 G
STARD13     2-1306-004chr13:
33907433-33907433
GGACintronicDe novo--Yuen2017 G
STARD13     AU031003chr13:
33844113-33844113
CAintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     1-0567-003chr13:
34234333-34234333
GCintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     5-0014-003chr13:
34197415-34197419
ATTTTAintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     12303.p1chr13:
33697456-33697456
GAintronicDe novo--Wilfert2021 G
STARD13     1-0923-003chr13:
34091493-34091493
TCintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     2-1306-003chr13:
33907433-33907433
GGACintronicDe novo--Yuen2017 G
STARD13     AU074503chr13:
33699559-33699559
CTintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     2-1164-003chr13:
33730472-33730472
TAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
STARD13     AU3124302chr13:
33887989-33887989
CTintronicDe novo--Trost2022 G
Yuen2017 G
STARD13     AU3720302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
STARD13     SP0028643chr13:
33701557-33701557
CTexonicDe novosynonymous SNVNM_001243466
NM_001243474
NM_052851
NM_178006
NM_178007
NM_001243476
c.G1851A
c.G1521A
c.G1521A
c.G1875A
c.G1851A
c.G1770A
p.T617T
p.T507T
p.T507T
p.T625T
p.T617T
p.T590T
-7.46E-5Fu2022 E
Trost2022 G
Zhou2022 GE
STARD13     2-0295-004chr13:
34308427-34308427
CTintergenicDe novo--Yuen2017 G
STARD13     3-0460-000chr13:
33709663-33709663
TCintronicDe novo--Trost2022 G
STARD13     AU2504301chr13:
33726287-33726287
GAintronicDe novo--Trost2022 G
STARD13     4-0062-003chr13:
33704162-33704163
CTGGexonicDe novononframeshift substitutionNM_001243466
NM_001243474
NM_052851
NM_178006
NM_178007
NM_001243476
c.627_628CC
c.297_298CC
c.297_298CC
c.651_652CC
c.627_628CC
c.546_547CC
N/A
N/A
N/A
N/A
N/A
N/A
--Trost2022 G
STARD13     MSSNG00101-004chr13:
33705640-33705640
ATintronicDe novo--Trost2022 G
STARD13     AU3692301 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G
STARD13     7-0095-004chr13:
33701956-33701956
TCintronicDe novo--Trost2022 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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