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Results for "SPTBN5"

Variant Events: 22

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     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     SSC09724chr15:
42144028-42144028
GCexonicDe novosynonymous SNVNM_016642c.C10605Gp.T3535T--Lim2017 E
SPTBN5     iHART3300chr15:
42145779-42145779
CTsplicingPaternalsplicing12.04-Ruzzo2019 G
SPTBN5     1-0560-003chr15:
42171032-42171032
GAintronicDe novo--Yuen2017 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     ASDFI_1166chr15:
42168347-42168347
GCexonicDe novononsynonymous SNVNM_016642c.C4087Gp.L1363V13.41-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SPTBN5     11563.p1chr15:
42150831-42150831
GAexonicDe novononsynonymous SNVNM_016642c.C8195Tp.A2732V11.161.915E-5Satterstrom2020 E
SPTBN5     07C68594chr15:
42185167-42185167
TGexonicDe novosynonymous SNVNM_016642c.A309Cp.P103P-8.871E-5Satterstrom2020 E
SPTBN5     EGAN00001101291chr15:
42185167-42185167
TGexonicDe novosynonymous SNVNM_016642c.A309Cp.P103P-8.871E-5Satterstrom2020 E
SPTBN5     MT_69chr15:
42154996-42154996
GAexonicPaternalstopgainNM_016642c.C7255Tp.Q2419X47.0-Toma2013 E
SPTBN5     1-0358-003chr15:
42160945-42160945
CTintronicDe novo--Yuen2017 G
SPTBN5     7-0055-003chr15:
42147534-42147534
TCexonicDe novononsynonymous SNVNM_016642c.A9311Gp.Q3104R26.1-Yuen2017 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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