or
or
Exact

Results for "UGT2B10"

Variant Events: 11

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
UGT2B10     AU2975302chr4:
69693703-69693703
AGintronicDe novo--Yuen2017 G
UGT2B10     2-0135-004chr4:
69894699-69894699
ACintergenicDe novo--Yuen2017 G
UGT2B10     1255JS0005chr4:
69681849-69681849
AGexonicDe novononsynonymous SNVNM_001075
NM_001144767
c.A112G
c.A112G
p.M38V
p.M38V
2.058-Lim2017 E
UGT2B10     CC1083.201chr4:
69693266-69693266
CTexonicDe novononsynonymous SNVNM_001075
NM_001144767
NM_001290091
c.C1307T
c.C1055T
c.C563T
p.S436L
p.S352L
p.S188L
9.6742.0E-4Satterstrom2020 E
UGT2B10     5-0147-003chr4:
69949613-69949613
CGintergenicDe novo--Yuen2017 G
UGT2B10     AU4426303chr4:
69890839-69890839
TAintergenicDe novo--Yuen2017 G
UGT2B10     AU048206chr4:
69709374-69709374
GCintergenicDe novo--Yuen2017 G
UGT2B10     09C90017chr4:
69681849-69681849
AGexonicDe novononsynonymous SNVNM_001075
NM_001144767
c.A112G
c.A112G
p.M38V
p.M38V
2.058-Neale2012 E
UGT2B10     AU012803chr4:
69694825-69694825
GAintronicDe novo--Yuen2017 G
UGT2B10     AU2035301chr4:
69912565-69912565
GTintergenicDe novo--Yuen2017 G
UGT2B10     2-1235-003chr4:
69706014-69706014
GTintergenicDe 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