or
or
Exact

Results for "ALG8"

Variant Events: 9

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
ALG8     1-0393-003chr11:
77830894-77830894
TGintronicDe novo--Trost2022 G
Yuen2017 G
ALG8     2-1425-003chr11:
77838111-77838111
CTintronicDe novo--Trost2022 G
Yuen2017 G
ALG8     2-1093-005chr11:
77837641-77837641
TTGAintronicDe novo--Trost2022 G
Yuen2017 G
ALG8     2-1279-003chr11:
77810486-77810486
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
ALG8     2-1355-004chr11:
77850078-77850078
CAintronicDe novo--Trost2022 G
Yuen2017 G
ALG8     SP0103946chr11:
77850590-77850590
CTexonicDe novosynonymous SNVNM_001007027
NM_024079
c.G45A
c.G45A
p.S15S
p.S15S
--Fu2022 E
Trost2022 G
Zhou2022 GE
ALG8     133339chr11:
77817853-77817853
CTexonicnonsynonymous SNVNM_001007027
NM_024079
c.G1178A
c.G1178A
p.S393N
p.S393N
33.01.648E-5Woodbury-Smith2022 E
ALG8     111308chr11:
77817853-77817853
CTexonicnonsynonymous SNVNM_001007027
NM_024079
c.G1178A
c.G1178A
p.S393N
p.S393N
33.01.648E-5Woodbury-Smith2022 E
ALG8     AU3951301chr11:
77841345-77841345
AGintronicDe novo--Yuen2017 G
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