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Results for "SPTBN5"

Variant Events: 54

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
SPTBN5     3589_17auchr15:
42185117-42185117		CTexonicDe novononsynonymous SNVNM_016642c.G359Ap.R120Q20.53.0E-4Fu2022 E
SPTBN5     1-0560-003chr15:
42171032-42171032		GAintronicDe novo--Yuen2017 G
SPTBN5     1-0358-003chr15:
42160945-42160945		CTintronicDe novo--Yuen2017 G
SPTBN5     SP0028220chr15:
42156031-42156031		GTintronicDe novo--Fu2022 E
SPTBN5     iHART2605chr15:
42149458-42149458		GAexonicPaternalstopgainNM_016642c.C8599Tp.Q2867X48.01.938E-5Ruzzo2019 G
SPTBN5     iHART3044chr15:
42146337-42146337		GAexonicPaternalstopgainNM_016642c.C9685Tp.Q3229X50.06.561E-5Ruzzo2019 G
SPTBN5     iHART1424chr15:
42158097-42158097		AACexonicPaternalframeshift insertionNM_016642c.6826dupGp.V2276fs-3.603E-5Ruzzo2019 G
SPTBN5     iHART2791chr15:
42158044-42158044		GAexonicMaternalstopgainNM_016642c.C6880Tp.R2294X46.03.88E-5Ruzzo2019 G
SPTBN5     iHART1237chr15:
42142117-42142117		GGCTGAexonicMaternalframeshift insertionNM_016642c.10961_10962insTCAGp.S3654fs-1.0E-4Ruzzo2019 G
SPTBN5     iHART3300chr15:
42145779-42145779		CTsplicingPaternalsplicing12.04-Ruzzo2019 G
SPTBN5     iHART3298chr15:
42145779-42145779		CTsplicingPaternalsplicing12.04-Ruzzo2019 G
SPTBN5     JASD_Fam0110chr15:
42142103-42142103		CTexonicDe novononsynonymous SNVNM_016642c.G10976Ap.C3659Y0.005-Takata2018 E
SPTBN5     iHART1268chr15:
42185746-42185746		TCsplicingMaternalsplicing--Ruzzo2019 G
SPTBN5     iHART1880chr15:
42171591-42171591		GAexonicPaternalstopgainNM_016642c.C3049Tp.R1017X40.04.424E-5Ruzzo2019 G
SPTBN5     iHART1327chr15:
42160302-42160304		ACTAexonicMaternalframeshift deletionNM_016642c.6170_6171delp.E2057fs--Ruzzo2019 G
SPTBN5     iHART1271chr15:
42185746-42185746		TCsplicingMaternalsplicing--Ruzzo2019 G
SPTBN5     iHART1879chr15:
42171591-42171591		GAexonicPaternalstopgainNM_016642c.C3049Tp.R1017X40.04.424E-5Ruzzo2019 G
SPTBN5     AU4235301chr15:
42145779-42145779		CTsplicingPaternalsplicing12.04-Cirnigliaro2023 G
SPTBN5     1-1084-003chr15:
42145250-42145250		GAintronicDe novo--Trost2022 G
SPTBN5     mAGRE2376chr15:
42143077-42143077		CTexonicPaternalstopgainNM_016642c.G10896Ap.W3632X52.03.0E-4Cirnigliaro2023 G
SPTBN5     mAGRE2372chr15:
42143077-42143077		CTexonicPaternalstopgainNM_016642c.G10896Ap.W3632X52.03.0E-4Cirnigliaro2023 G
SPTBN5     ASDFI_1166chr15:
42168347-42168347		GCexonicDe novononsynonymous SNVNM_016642c.C4087Gp.L1363V13.41-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SPTBN5     mAGRE2370chr15:
42143077-42143077		CTexonicPaternalstopgainNM_016642c.G10896Ap.W3632X52.03.0E-4Cirnigliaro2023 G
SPTBN5     mAGRE2369chr15:
42143077-42143077		CTexonicPaternalstopgainNM_016642c.G10896Ap.W3632X52.03.0E-4Cirnigliaro2023 G
SPTBN5     mAGRE2314chr15:
42143077-42143077		CTexonicPaternalstopgainNM_016642c.G10896Ap.W3632X52.03.0E-4Cirnigliaro2023 G
SPTBN5     mAGRE1237chr15:
42142117-42142117		GGCTGAexonicMaternalframeshift insertionNM_016642c.10961_10962insTCAGp.S3654fs-1.0E-4Cirnigliaro2023 G
SPTBN5     07C68594chr15:
42185167-42185167		TGexonicDe novosynonymous SNVNM_016642c.A309Cp.P103P-8.871E-5Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SPTBN5     mAGRE1424chr15:
42158097-42158097		AACexonicPaternalframeshift insertionNM_016642c.6826dupGp.V2276fs-3.603E-5Cirnigliaro2023 G
SPTBN5     EGAN00001101291chr15:
42185167-42185167		TGexonicDe novosynonymous SNVNM_016642c.A309Cp.P103P-8.871E-5Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SPTBN5     mAGRE2791chr15:
42158044-42158044		GAexonicMaternalstopgainNM_016642c.C6880Tp.R2294X46.03.88E-5Cirnigliaro2023 G
SPTBN5     mAGRE4205chr15:
42155901-42155901		CAsplicingPaternalsplicing16.851.672E-5Cirnigliaro2023 G
SPTBN5     mAGRE4204chr15:
42155901-42155901		CAsplicingPaternalsplicing16.851.672E-5Cirnigliaro2023 G
SPTBN5     mAGRE6030chr15:
42155053-42155053		GAexonicPaternalstopgainNM_016642c.C7198Tp.Q2400X47.0-Cirnigliaro2023 G
SPTBN5     mAGRE2605chr15:
42149458-42149458		GAexonicPaternalstopgainNM_016642c.C8599Tp.Q2867X48.01.938E-5Cirnigliaro2023 G
SPTBN5     7-0225-003chr15:
42170067-42170067		GCintronicDe novo--Trost2022 G
SPTBN5     mAGRE3044chr15:
42146337-42146337		GAexonicPaternalstopgainNM_016642c.C9685Tp.Q3229X50.06.561E-5Cirnigliaro2023 G
SPTBN5     AU4235302chr15:
42145779-42145779		CTsplicingPaternalsplicing12.04-Cirnigliaro2023 G
SPTBN5     mAGRE1271chr15:
42185746-42185746		TCsplicingMaternalsplicing--Cirnigliaro2023 G
SPTBN5     mAGRE1268chr15:
42185746-42185746		TCsplicingMaternalsplicing--Cirnigliaro2023 G
SPTBN5     mAGRE1880chr15:
42171591-42171591		GAexonicPaternalstopgainNM_016642c.C3049Tp.R1017X40.04.424E-5Cirnigliaro2023 G
SPTBN5     mAGRE1879chr15:
42171591-42171591		GAexonicPaternalstopgainNM_016642c.C3049Tp.R1017X40.04.424E-5Cirnigliaro2023 G
SPTBN5     mAGRE5549chr15:
42160634-42160634		GAexonicMaternalstopgainNM_016642c.C6019Tp.Q2007X46.09.231E-6Cirnigliaro2023 G
SPTBN5     mAGRE5995chr15:
42160366-42160368		CTGCexonicMaternalframeshift deletionNM_016642c.6106_6107delp.Q2036fs-6.436E-5Cirnigliaro2023 G
SPTBN5     SSC09724chr15:
42144028-42144028		GCexonicDe novosynonymous SNVNM_016642c.C10605Gp.T3535T--Lim2017 E
SPTBN5     mAGRE1327chr15:
42160302-42160304		ACTAexonicMaternalframeshift deletionNM_016642c.6170_6171delp.E2057fs--Cirnigliaro2023 G
SPTBN5     mAGRE5872chr15:
42158285-42158286		AGAexonicMaternalframeshift deletionNM_016642c.6772delCp.L2258fs--Cirnigliaro2023 G
SPTBN5     13907.p1chr15:
42144028-42144028		GCexonicsynonymous SNVNM_016642c.C10605Gp.T3535T--Zhou2022 GE
SPTBN5     MSSNG00159-003chr15:
42147490-42147490		CTexonicnonsynonymous SNVNM_016642c.G9355Ap.A3119T0.0221.73E-5Zhou2022 GE
SPTBN5     11563.p1chr15:
42150831-42150831		GAexonicDe novononsynonymous SNVNM_016642c.C8195Tp.A2732V11.161.915E-5Satterstrom2020 E
Trost2022 G
SPTBN5     SP0047928chr15:
42147654-42147654		TCintronicDe novo--Fu2022 E
Trost2022 G
SPTBN5     MT_69chr15:
42154996-42154996		GAexonicPaternalstopgainNM_016642c.C7255Tp.Q2419X47.0-Toma2013 E
SPTBN5     SP0123712chr15:
42162070-42162070		CTexonicDe novononsynonymous SNVNM_016642c.G5822Ap.R1941Q1.5923.0E-4Fu2022 E
Zhou2022 GE
SPTBN5     SP0116444chr15:
42144472-42144472		CTexonicDe novononsynonymous SNVNM_016642c.G10492Ap.G3498R2.6631.416E-5Fu2022 E
Zhou2022 GE
SPTBN5     7-0055-003chr15:
42147534-42147534		TCexonicDe novononsynonymous SNVNM_016642c.A9311Gp.Q3104R26.1-Yuen2017 G
Zhou2022 GE
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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URL
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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.
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