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Results for "MGAT5B"

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
MGAT5B     14048.p1chr17:
74944056-74944056
CTexonicDe novononsynonymous SNVNM_198955
NM_001199172
NM_144677
c.C2095T
c.C2068T
c.C2062T
p.R699W
p.R690W
p.R688W
21.48.953E-6Ji2016 E
Krumm2015 E
Satterstrom2020 E
MGAT5B     1-0467-003chr17:
74949073-74949073
TCintergenicDe novo--Yuen2017 G
MGAT5B     1-0265-003chr17:
74873884-74873884
AGintronicDe novo--Yuen2017 G
MGAT5B     2-0098-003chr17:
74877811-74877811
CGintronicDe novo--Yuen2016 G
Yuen2017 G
MGAT5B     AU3811305chr17:
75041515-75041515
AGintergenicDe novo--Yuen2017 G
MGAT5B     1-0568-003chr17:
74924239-74924239
GAintronicDe novo--Yuen2017 G
MGAT5B     AU3398301chr17:
74916101-74916101
AGintronicDe novo--Yuen2017 G
MGAT5B     SSC10289chr17:
74944056-74944056
CTexonicDe novononsynonymous SNVNM_198955
NM_001199172
NM_144677
c.C2095T
c.C2068T
c.C2062T
p.R699W
p.R690W
p.R688W
21.48.953E-6Lim2017 E
MGAT5B     2-1729-003chr17:
74944009-74944009
GAexonicDe novononsynonymous SNVNM_198955
NM_001199172
NM_144677
c.G2048A
c.G2021A
c.G2015A
p.R683Q
p.R674Q
p.R672Q
4.452.576E-5Yuen2017 G
MGAT5B     1-0265-004chr17:
74873884-74873884
AGintronicDe novo--Yuen2017 G
MGAT5B     2-0142-004chr17:
74887251-74887251
TGintronicDe novo--Yuen2017 G
MGAT5B     AU2156303chr17:
74979969-74979969
GCintergenicDe novo--Yuen2017 G
MGAT5B     2-1146-003chr17:
75036723-75036723
GAintergenicDe novo--Yuen2017 G
MGAT5B     2-1174-006chr17:
74949045-74949045
TCintergenicDe novo--Yuen2017 G
MGAT5B     5-0071-003chr17:
74949045-74949045
TCintergenicDe novo--Yuen2017 G
MGAT5B     2-0135-004chr17:
74949049-74949049
AGintergenicDe novo--Yuen2017 G
MGAT5B     1-0344-003chr17:
74949083-74949083
AGintergenicDe 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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