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Results for "SPTBN1"

Variant Events: 27

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
SPTBN1     2-1437-003chr2:
54727329-54727329
AGintronicDe novo--Yuen2017 G
SPTBN1     2-1345-003chr2:
54700408-54700408
TCintronicDe novo--Yuen2016 G
Yuen2017 G
SPTBN1     Li2017:19773chr2:
54880962-54880962
CTexonicUnknownnonsynonymous SNVNM_178313
NM_003128
c.C5755T
c.C5794T
p.R1919W
p.R1932W
33.0-Li2017 T
SPTBN1     2-0158-003chr2:
54819759-54819759
AGintronicDe novo--Yuen2017 G
SPTBN1     2-1594-003chr2:
54905008-54905008
GAintergenicDe novo--Yuen2017 G
SPTBN1     2-0182-003chr2:
54715577-54715578
TCTintronicDe novo--Yuen2017 G
SPTBN1     AU066818chr2:
54935607-54935607
GCintergenicDe novo--Yuen2017 G
SPTBN1     5-0117-003chr2:
54815010-54815010
AGintronicDe novo--Yuen2017 G
SPTBN1     12517.p1chr2:
54882174-54882174
CTintronicDe novo--Satterstrom2020 E
SPTBN1     PN400241chr2:
54856784-54856784
CTexonicUnknownnonsynonymous SNVNM_178313
NM_003128
c.C2474T
c.C2513T
p.T825M
p.T838M
29.5-Leblond2019 E
SPTBN1     1-0901-004chr2:
54827435-54827436
AGAintronicDe novo--Yuen2017 G
SPTBN1     AU4263304chr2:
54874241-54874241
GCintronicDe novo--Yuen2017 G
SPTBN1     Lim2017:36161chr2:
54858514-54858514
GCexonicDe novononsynonymous SNVNM_178313
NM_003128
c.G3291C
c.G3330C
p.E1097D
p.E1110D
18.12-Lim2017 E
SPTBN1     270-08-110148chr2:
54851968-54851968
CAexonicDe novononsynonymous SNVNM_178313
NM_003128
c.C1171A
c.C1210A
p.H391N
p.H404N
31.0-Satterstrom2020 E
SPTBN1     AU2371303chr2:
54858382-54858382
GAexonicDe novosynonymous SNVNM_178313
NM_003128
c.G3159A
c.G3198A
p.Q1053Q
p.Q1066Q
--Satterstrom2020 E
SPTBN1     PN400240chr2:
54856784-54856784
CTexonicUnknownnonsynonymous SNVNM_178313
NM_003128
c.C2474T
c.C2513T
p.T825M
p.T838M
29.5-Leblond2019 E
SPTBN1     Li2017:18472chr2:
54856594-54856594
GAexonicUnknownnonsynonymous SNVNM_178313
NM_003128
c.G2284A
c.G2323A
p.D762N
p.D775N
24.58.275E-6Li2017 T
SPTBN1     AU076509chr2:
54910329-54910331
GGAGGAGAintergenicDe novo--Yuen2017 G
SPTBN1     AU2248302chr2:
54766169-54766175
CAAGAAACAAintronicDe novo--Yuen2017 G
SPTBN1     13882.p1chr2:
54857033-54857033
GTexonicDe novostopgainNM_178313
NM_003128
c.G2635T
c.G2674T
p.E879X
p.E892X
43.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
SPTBN1     14402.p1chr2:
54858514-54858514
GCexonicDe novononsynonymous SNVNM_178313
NM_003128
c.G3291C
c.G3330C
p.E1097D
p.E1110D
18.12-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SPTBN1     2-1283-004chr2:
54749851-54749851
AAGintronicDe novo--Yuen2017 G
SPTBN1     AU046707chr2:
54738948-54738948
CTintronicDe novo--Yuen2017 G
SPTBN1     AU2248302chr2:
54694737-54694737
GCintronicDe novo--Yuen2017 G
SPTBN1     AU046707chr2:
54740937-54740937
AGintronicDe novo--Yuen2017 G
SPTBN1     AU2248302chr2:
54702654-54702654
AGintronicDe novo--Yuen2017 G
SPTBN1     AU2248302chr2:
54728362-54728362
GTintronicDe novo--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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