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Results for "NHSL1"

Variant Events: 22

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
NHSL1     2-0149-005chr6:
139000906-139000906
CTintergenicDe novo--Yuen2017 G
NHSL1     AU054103chr6:
138998574-138998574
CTintergenicDe novo--Yuen2017 G
NHSL1     1-0479-006chr6:
138786910-138786910
GAintronicDe novo--Yuen2017 G
NHSL1     1-0329-004chr6:
138862279-138862279
GAintronicDe novo--Yuen2017 G
NHSL1     1-0965-003chr6:
138932663-138932663
CTintergenicDe novo--Yuen2017 G
NHSL1     2-1261-003chr6:
138940547-138940547
CAintergenicDe novo--Yuen2017 G
NHSL1     SP0025824chr6:
138750916-138750916
GAexonicDe novosynonymous SNVNM_020464
NM_001144060
c.C4029T
c.C4017T
p.D1343D
p.D1339D
-9.144E-5Feliciano2019 E
NHSL1     12991.p1chr6:
138754215-138754215
CTexonicDe novononsynonymous SNVNM_020464
NM_001144060
c.G1279A
c.G1267A
p.E427K
p.E423K
26.89.21E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
NHSL1     1-0345-003chr6:
138803819-138803819
AGintronicDe novo--Yuen2017 G
NHSL1     AU4093304chr6:
138805163-138805163
TCintronicDe novo--Yuen2017 G
NHSL1     14178.p1chr6:
138874226-138874226
TGintronicDe novo--Werling2018 G
NHSL1     G01-GEA-283-HIchr6:
138751787-138751787
GAexonicDe novononsynonymous SNVNM_020464
NM_001144060
c.C3707T
c.C3695T
p.T1236M
p.T1232M
8.213-Satterstrom2020 E
NHSL1     12198.p1chr6:
138752927-138752927
TAexonicDe novononsynonymous SNVNM_020464
NM_001144060
c.A2567T
c.A2555T
p.Y856F
p.Y852F
21.7-Ji2016 E
NHSL1     AU2165301chr6:
138937401-138937401
GAintergenicDe novo--Yuen2017 G
NHSL1     AU3175302chr6:
138976317-138976317
TGintergenicDe novo--Yuen2017 G
NHSL1     14015.p1chr6:
138822718-138822718
GCintronicDe novo--Turner2016 G
NHSL1     11729.p1chr6:
138851991-138851991
GAintronicDe novo--Wilfert2021 G
NHSL1     AU2162302chr6:
138874368-138874368
GAintronicDe novo--Yuen2017 G
NHSL1     2-0240-004chr6:
138855256-138855256
TCintronicDe novo--Yuen2017 G
NHSL1     AU2485305chr6:
138918548-138918548
GCintergenicDe novo--Yuen2017 G
NHSL1     AU066818chr6:
139005655-139005655
GAintergenicDe novo--Yuen2017 G
NHSL1     2-1719-003chr6:
139007270-139007272
ATTATTTintergenicDe 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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