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Results for "STARD9"

Variant Events: 50

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     mAGRE1462chr15:
43010203-43010203		CCTTTAexonicPaternalframeshift insertionNM_020759c.13588_13589insTTTAp.L4530fs--Cirnigliaro2023 G
STARD9     mAGRE1461chr15:
43010203-43010203		CCTTTAexonicPaternalframeshift insertionNM_020759c.13588_13589insTTTAp.L4530fs--Cirnigliaro2023 G
STARD9     AU3761301chr15:
42984934-42984934		CTexonicMaternalstopgainNM_020759c.C11158Tp.Q3720X52.05.739E-5Cirnigliaro2023 G
STARD9     mAGRE1277chr15:
42982195-42982195		GGAexonicPaternalframeshift insertionNM_020759c.8420dupAp.E2807fs--Cirnigliaro2023 G
STARD9     mAGRE5978chr15:
42979405-42979405		ATexonicPaternalstopgainNM_020759c.A5629Tp.K1877X40.02.0E-4Cirnigliaro2023 G
STARD9     mAGRE2355chr15:
42979405-42979405		ATexonicPaternalstopgainNM_020759c.A5629Tp.K1877X40.02.0E-4Cirnigliaro2023 G
STARD9     mAGRE2352chr15:
42979405-42979405		ATexonicPaternalstopgainNM_020759c.A5629Tp.K1877X40.02.0E-4Cirnigliaro2023 G
STARD9     AU4013301chr15:
42978929-42978933		CCCTTCexonicMaternalframeshift deletionNM_020759c.5154_5157delp.A1718fs-4.958E-5Cirnigliaro2023 G
STARD9     AU3900302chr15:
43010631-43010631		AGsplicingMaternalsplicing15.15-Cirnigliaro2023 G
STARD9     1-0120-003chr15:
42987384-42987384		GCexonicDe novononsynonymous SNVNM_020759c.G13009Cp.E4337Q18.61-Yuen2017 G
Zhou2022 GE
STARD9     mAGRE2523chr15:
43010331-43010331		CCCAGAexonicMaternalframeshift insertionNM_020759c.13716_13717insCAGAp.I4572fs-5.729E-5Cirnigliaro2023 G
STARD9     mAGRE2522chr15:
43010331-43010331		CCCAGAexonicMaternalframeshift insertionNM_020759c.13716_13717insCAGAp.I4572fs-5.729E-5Cirnigliaro2023 G
STARD9     12617.p1chr15:
42967936-42967936		CTexonicDe novostopgainNM_020759c.C1762Tp.R588X26.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
STARD9     12249.p1chr15:
42979758-42979758		TGexonicDe novononsynonymous SNVNM_020759c.T5982Gp.F1994L12.015.333E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
STARD9     1-0139-003chr15:
42902721-42902721		TCintronicDe novo--Yuen2017 G
STARD9     08C72794chr15:
43010163-43010163		GAintronicDe novo--Satterstrom2020 E
Trost2022 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     iHART2523chr15:
43010331-43010331		CCCAGAexonicMaternalframeshift insertionNM_020759c.13716_13717insCAGAp.I4572fs-5.729E-5Ruzzo2019 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
Trost2022 G
STARD9     152716chr15:
43011636-43011636		AGintronicDe novo-5.564E-5Satterstrom2020 E
Trost2022 G
STARD9     68720chr15:
42967936-42967936		CTexonicDe novostopgainNM_020759c.C1762Tp.R588X26.3-Fu2022 E
Trost2022 G
STARD9     SP0111799chr15:
42968031-42968031		GAintronicDe novo--Fu2022 E
STARD9     mAGRE1168chr15:
42943213-42943213		GCsplicingPaternalsplicing20.25.218E-5Cirnigliaro2023 G
STARD9     SP0092684chr15:
42958066-42958066		TCintronicDe novo--Fu2022 E
STARD9     SP0065253chr15:
42978484-42978484		TCexonicDe novosynonymous SNVNM_020759c.T4708Cp.L1570L--Fu2022 E
Zhou2022 GE
STARD9     SP0152806chr15:
42981726-42981726		GAexonicDe novosynonymous SNVNM_020759c.G7950Ap.L2650L--Fu2022 E
Zhou2022 GE
STARD9     SP0152807chr15:
42981726-42981726		GAexonicsynonymous SNVNM_020759c.G7950Ap.L2650L--Zhou2022 GE
STARD9     1-0142-005chr15:
42958384-42958384		GAintronicDe novo--Yuen2017 G
STARD9     AU3053302chr15:
42977441-42977442		CTCexonicPaternalframeshift deletionNM_020759c.3666delTp.P1222fs--Cirnigliaro2023 G
STARD9     AU3053301chr15:
42977441-42977442		CTCexonicPaternalframeshift deletionNM_020759c.3666delTp.P1222fs--Cirnigliaro2023 G
STARD9     80001103390chr15:
42930950-42930950		CCAexonicDe novoframeshift insertionNM_020759c.500dupAp.Q167fs--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
STARD9     mAGRE5456chr15:
42977428-42977428		CCAGCAAGAexonicPaternalframeshift insertionNM_020759c.3652_3653insAGCAAGAp.Q1218fs--Cirnigliaro2023 G
STARD9     mAGRE5309chr15:
42968068-42968068		ATsplicingMaternalsplicing13.15-Cirnigliaro2023 G
STARD9     mAGRE5308chr15:
42968068-42968068		ATsplicingMaternalsplicing13.15-Cirnigliaro2023 G
STARD9     mAGRE4440chr15:
42968068-42968068		ATsplicingMaternalsplicing13.15-Cirnigliaro2023 G
STARD9     mAGRE4439chr15:
42968068-42968068		ATsplicingMaternalsplicing13.15-Cirnigliaro2023 G
STARD9     mAGRE5807chr15:
42955595-42955595		CTexonicMaternalstopgainNM_020759c.C985Tp.R329X18.75-Cirnigliaro2023 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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