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Results for "NUP210L"

Variant Events: 15

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
NUP210L     iHART3190chr1:
154002398-154002412
CCAACAAATTCCCCTCexonicMaternalframeshift deletionNM_001159484
NM_207308
c.3815_3828del
c.3815_3828del
p.E1272fs
p.E1272fs
--Ruzzo2019 G
NUP210L     1-0175-003chr1:
154043456-154043456
AGintronicDe novo--Yuen2017 G
NUP210L     7-0249-003chr1:
154100678-154100678
AGintronicDe novo--Yuen2017 G
NUP210L     7-0167-003chr1:
154122760-154122760
TCintronicDe novo--Yuen2017 G
NUP210L     iHART3187chr1:
154002398-154002412
CCAACAAATTCCCCTCexonicMaternalframeshift deletionNM_001159484
NM_207308
c.3815_3828del
c.3815_3828del
p.E1272fs
p.E1272fs
--Ruzzo2019 G
NUP210L     iHART3184chr1:
154002398-154002412
CCAACAAATTCCCCTCexonicMaternalframeshift deletionNM_001159484
NM_207308
c.3815_3828del
c.3815_3828del
p.E1272fs
p.E1272fs
--Ruzzo2019 G
NUP210L     NDAR_INVLA204TKP_wes1chr1:
154034042-154034042
ATintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
NUP210L     14065.p1chr1:
154067525-154067525
CTexonicDe novosynonymous SNVNM_001159484
NM_207308
c.G2073A
c.G2073A
p.L691L
p.L691L
--Krumm2015 E
Satterstrom2020 E
NUP210L     AU4197302chr1:
154061492-154061492
GAintronicDe novo--Yuen2017 G
NUP210L     1-0541-003chr1:
154027667-154027667
TTCintronicDe novo--Yuen2017 G
NUP210L     2-1626-003chr1:
153980282-153980282
CTintronicDe novo--Yuen2017 G
NUP210L     2-1164-003chr1:
153996752-153996752
GAintronicDe novo--Yuen2016 G
Yuen2017 G
NUP210L     SSC10390chr1:
154067525-154067525
CTexonicDe novosynonymous SNVNM_001159484
NM_207308
c.G2073A
c.G2073A
p.L691L
p.L691L
--Lim2017 E
NUP210L     1-0175-004chr1:
154088768-154088768
CTintronicDe novo--Yuen2017 G
NUP210L     1-0175-004chr1:
154043456-154043456
AGintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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