or
or
Exact

Results for "SUPV3L1"

Variant Events: 8

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
SUPV3L1     111309chr10:
70960062-70960062
CGexonicnonsynonymous SNVNM_003171
NM_001301683
c.C1325G
c.C932G
p.S442C
p.S311C
20.98.244E-6Woodbury-Smith2022 E
SUPV3L1     1792_17AUchr10:
70947577-70947578
ATAintronicDe novo--Fu2022 E
SUPV3L1     AU2194301chr10:
70949355-70949359
TAAGATintronicDe novo--Trost2022 G
SUPV3L1     SP0083545chr10:
70951555-70951555
GCintronicDe novo--Fu2022 E
SUPV3L1     2-1715-004chr10:
70968785-70968785
GAexonicDe novosynonymous SNVNM_003171
NM_001301683
c.G2355A
c.G1962A
p.S785S
p.S654S
-8.434E-6Trost2022 G
Yuen2017 G
Zhou2022 GE
SUPV3L1     AGG0112chr10:
70962795-70962795
TCexonicDe novononsynonymous SNVNM_003171
NM_001301683
c.T1772C
c.T1379C
p.L591S
p.L460S
21.9-Fu2022 E
SUPV3L1     SP0060129chr10:
70958131-70958131
CGexonicDe novononsynonymous SNVNM_003171
NM_001301683
c.C1027G
c.C634G
p.R343G
p.R212G
14.02-Fu2022 E
Trost2022 G
Zhou2022 GE
SUPV3L1     SP0058759chr10:
70947420-70947420
AATexonicDe novoframeshift insertionNM_003171
NM_001301683
c.481dupT
c.88dupT
p.P160fs
p.P29fs
--Fu2022 E
Trost2022 G
Zhou2022 GE
Source Variant Information

, -

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
More