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Results for "SLTM"

Variant Events: 17

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
SLTM     1000348645725644-C1chr15:
59191856-59191856
CTexonicDe novosynonymous SNVNM_001013843
NM_024755
c.G816A
c.G870A
p.P272P
p.P290P
--Fu2022 E
SLTM     AU4233301chr15:
59255726-59255726
GCintergenicDe novo--Yuen2017 G
SLTM     AU004403chr15:
59200401-59200401
AGintronicDe novo--Trost2022 G
SLTM     1-1018-003chr15:
59210265-59210266
CTCintronicDe novo--Trost2022 G
SLTM     SP0173301chr15:
59181657-59181658
AGAexonicDe novoframeshift deletionNM_001013843
NM_024755
c.2121delC
c.2175delC
p.S707fs
p.S725fs
--Trost2022 G
SLTM     SP0115276chr15:
59191685-59191685
GAexonicDe novosynonymous SNVNM_001013843
NM_024755
c.C987T
c.C1041T
p.A329A
p.A347A
--Fu2022 E
Trost2022 G
Zhou2022 GE
SLTM     PN400124chr15:
59175934-59175934
CTexonicUnknownnonsynonymous SNVNM_001013843
NM_024755
c.G2833A
c.G2887A
p.G945R
p.G963R
32.08.237E-6Leblond2019 E
SLTM     SP0026295chr15:
59182563-59182565
GCTGexonicDe novoframeshift deletionNM_001013843
NM_024755
c.1940_1941del
c.1994_1995del
p.E647fs
p.E665fs
-0.0021Fu2022 E
SLTM     SP0034170chr15:
59225815-59225815
GAUTR5De novo--Fu2022 E
Trost2022 G
SLTM     AU3997302chr15:
59239453-59239453
TCintergenicDe novo--Yuen2017 G
SLTM     MSSNG00407-003chr15:
59186026-59186026
GAexonicDe novostopgainNM_001013843
NM_024755
c.C1588T
c.C1642T
p.R530X
p.R548X
37.0-Trost2022 G
Zhou2022 GE
SLTM     1-0075-003chr15:
59186307-59186307
GAexonicDe novononsynonymous SNVNM_001013843
NM_024755
c.C1409T
c.C1463T
p.T470M
p.T488M
7.0398.724E-6Yuen2017 G
Zhou2022 GE
SLTM     AU059003chr15:
59219292-59219292
ACintronicDe novo--Trost2022 G
SLTM     08C74660chr15:
59225590-59225590
CAintronicDe novo--Satterstrom2020 E
Trost2022 G
SLTM     1-0104-003chr15:
59239236-59239236
AGintergenicDe novo--Yuen2017 G
SLTM     SMHC01999s000chr15:
59225722-59225722
CGexonicDe novononsynonymous SNVNM_001013843
NM_024755
c.G43C
c.G43C
p.G15R
p.G15R
14.79-Yuan2023 E
SLTM     2-0057-004chr15:
59224726-59224726
CTintronicDe novo--Trost2022 G
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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