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Results for "STARD9"

Variant Events: 29

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
STARD9     08C72794chr15:
43010163-43010163
GAintronicDe novo--Satterstrom2020 E
STARD9     1-0120-003chr15:
42987384-42987384
GCexonicDe novononsynonymous SNVNM_020759c.G13009Cp.E4337Q18.61-Yuen2017 G
STARD9     2-1306-004chr15:
42949460-42949460
ATintronicDe novo--Yuen2017 G
STARD9     iHART3059chr15:
42977441-42977442
CTCexonicPaternalframeshift deletionNM_020759c.3666delTp.P1222fs--Ruzzo2019 G
STARD9     iHART3060chr15:
42977441-42977442
CTCexonicPaternalframeshift deletionNM_020759c.3666delTp.P1222fs--Ruzzo2019 G
STARD9     iHART2355chr15:
42979405-42979405
ATexonicPaternalstopgainNM_020759c.A5629Tp.K1877X40.02.0E-4Ruzzo2019 G
STARD9     iHART3249chr15:
42978929-42978933
CCCTTCexonicMaternalframeshift deletionNM_020759c.5154_5157delp.A1718fs-4.958E-5Ruzzo2019 G
STARD9     iHART1168chr15:
42943213-42943213
GCsplicingPaternalsplicing20.25.218E-5Ruzzo2019 G
STARD9     12617.p1chr15:
42967936-42967936
CTexonicDe novostopgainNM_020759c.C1762Tp.R588X26.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
STARD9     iHART2523chr15:
43010331-43010331
CCCAGAexonicMaternalframeshift insertionNM_020759c.13716_13717insCAGAp.I4572fs-5.729E-5Ruzzo2019 G
STARD9     12249.p1chr15:
42979758-42979758
TGexonicDe novononsynonymous SNVNM_020759c.T5982Gp.F1994L12.015.333E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
STARD9     iHART1462chr15:
43010203-43010203
CCTTTAexonicPaternalframeshift insertionNM_020759c.13588_13589insTTTAp.L4530fs--Ruzzo2019 G
STARD9     iHART3216chr15:
43010631-43010631
AGsplicingMaternalsplicing15.15-Ruzzo2019 G
STARD9     iHART2522chr15:
43010331-43010331
CCCAGAexonicMaternalframeshift insertionNM_020759c.13716_13717insCAGAp.I4572fs-5.729E-5Ruzzo2019 G
STARD9     iHART1277chr15:
42982195-42982195
GGAexonicPaternalframeshift insertionNM_020759c.8420dupAp.E2807fs--Ruzzo2019 G
STARD9     iHART2352chr15:
42979405-42979405
ATexonicPaternalstopgainNM_020759c.A5629Tp.K1877X40.02.0E-4Ruzzo2019 G
STARD9     iHART1461chr15:
43010203-43010203
CCTTTAexonicPaternalframeshift insertionNM_020759c.13588_13589insTTTAp.L4530fs--Ruzzo2019 G
STARD9     iHART3167chr15:
42984934-42984934
CTexonicMaternalstopgainNM_020759c.C11158Tp.Q3720X52.05.739E-5Ruzzo2019 G
STARD9     2-1306-003chr15:
42949460-42949460
ATintronicDe novo--Yuen2017 G
STARD9     14123.p1chr15:
42968221-42968221
CGintronicDe novo--Satterstrom2020 E
STARD9     1-0139-003chr15:
42902721-42902721
TCintronicDe novo--Yuen2017 G
STARD9     152716chr15:
43011636-43011636
AGintronicDe novo-5.564E-5Satterstrom2020 E
STARD9     68720chr15:
42967936-42967936
CTexonicDe novostopgainNM_020759c.C1762Tp.R588X26.3-Fu2022 E
STARD9     SP0111799chr15:
42968031-42968031
GAintronicDe novo--Fu2022 E
STARD9     SP0092684chr15:
42958066-42958066
TCintronicDe novo--Fu2022 E
STARD9     SP0065253chr15:
42978484-42978484
TCexonicDe novosynonymous SNVNM_020759c.T4708Cp.L1570L--Fu2022 E
STARD9     SP0152806chr15:
42981726-42981726
GAexonicDe novosynonymous SNVNM_020759c.G7950Ap.L2650L--Fu2022 E
STARD9     1-0142-005chr15:
42958384-42958384
GAintronicDe novo--Yuen2017 G
STARD9     80001103390chr15:
42930950-42930950
CCAexonicDe novoframeshift insertionNM_020759c.500dupAp.Q167fs--Fu2022 E
Satterstrom2020 E
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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