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Results for "MRPS30"

Variant Events: 27

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
MRPS30     1-0454-003chr5:
45067849-45067849
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
MRPS30     2-1620-003chr5:
45141218-45141218
CTintergenicDe novo--Yuen2017 G
MRPS30     AU031403chr5:
44930322-44930327
AATTATAATintergenicDe novo--Yuen2017 G
MRPS30     1-0546-003chr5:
44837205-44837205
TCintergenicDe novo--Yuen2017 G
MRPS30     AU3634301chr5:
44854901-44854901
TCintergenicDe novo--Yuen2017 G
MRPS30     AU4463303chr5:
45251121-45251121
CTintergenicDe novo--Yuen2017 G
MRPS30     11793.p1chr5:
44809375-44809375
GTexonicDe novononsynonymous SNVNM_016640c.G311Tp.R104L25.1-Ji2016 E
Krumm2015 E
MRPS30     AU3053302chr5:
45091344-45091344
TCintergenicDe novo--Yuen2017 G
MRPS30     2-1715-004chr5:
44984543-44984546
GAGTGintergenicDe novo--Yuen2017 G
MRPS30     AU4191302chr5:
45158042-45158042
CTintergenicDe novo--Yuen2017 G
MRPS30     2-1362-003chr5:
44835555-44835555
GAintergenicDe novo--Yuen2017 G
MRPS30     AU3913302chr5:
44946654-44946654
GAintergenicDe novo--Yuen2017 G
MRPS30     2-1715-003chr5:
44984543-44984546
GAGTGintergenicDe novo--Yuen2017 G
MRPS30     A23chr5:
45077653-45077653
AGintergenicDe novo--Wu2018 G
MRPS30     1-0155-003chr5:
44860527-44860527
CTintergenicDe novo--Yuen2017 G
MRPS30     1-0568-003chr5:
44831466-44831466
CTintergenicDe novo--Yuen2017 G
MRPS30     1-0210-004chr5:
44915835-44915835
AGintergenicDe novo--Yuen2017 G
MRPS30     AU071204chr5:
44865057-44865057
ATintergenicDe novo--Yuen2017 G
MRPS30     AU031003chr5:
45101382-45101383
CTCTTintergenicDe novo--Yuen2017 G
MRPS30     2-1422-003chr5:
45086262-45086262
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
MRPS30     2-0307-003chr5:
45167679-45167679
AGintergenicDe novo--Yuen2017 G
MRPS30     2-1195-003chr5:
45154575-45154575
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
MRPS30     08C75361chr5:
44815264-44815264
AGexonicDe novononsynonymous SNVNM_016640c.A1280Gp.N427S16.21-Satterstrom2020 E
MRPS30     13942.p1chr5:
44903808-44903808
GAintergenicDe novo--Turner2016 G
MRPS30     13946.p1chr5:
44990850-44990850
GTintergenicDe novo--Turner2016 G
MRPS30     2-1231-003chr5:
45244859-45244859
GTintergenicDe novo--Yuen2016 G
MRPS30     AU3907301chr5:
44975208-44975208
CTintergenicDe 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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