Variant Results

or

Results for "NHSL1"

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

NHSL1

2-0149-005

chr6:
139000906-139000906

C

T

intergenic

De novo

-

Yuen2017 G

NHSL1

AU054103

chr6:
138998574-138998574

C

T

intergenic

De novo

-

Yuen2017 G

NHSL1

1-0479-006

chr6:
138786910-138786910

G

A

intronic

De novo

-

Yuen2017 G

NHSL1

4-0007-003

chr6:
138743557-138743557

G

A

UTR3

De novo

-

Trost2022 G

NHSL1

12991_p1

chr6:
138754215-138754215

C

T

exonic

De novo

nonsynonymous SNV

NM_020464
NM_001144060

c.G1279A
c.G1267A

p.E427K
p.E423K

26.8

9.21E-5

Fu2022 E

NHSL1

AU4093304

chr6:
138805163-138805163

T

C

intronic

De novo

-

Yuen2017 G

NHSL1

G01-GEA-283-HI

chr6:
138751787-138751787

G

A

exonic

De novo

nonsynonymous SNV

NM_020464
NM_001144060

c.C3707T
c.C3695T

p.T1236M
p.T1232M

8.213

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NHSL1

AU2165301

chr6:
138937401-138937401

G

A

intergenic

De novo

-

Yuen2017 G

NHSL1

14015.p1

chr6:
138822718-138822718

G

C

intronic

De novo

-

Turner2016 G

NHSL1

2-0240-004

chr6:
138855256-138855256

T

C

intronic

De novo

-

Yuen2017 G

NHSL1

11879-1

chr6:
138751561-138751561

C

T

exonic

De novo

synonymous SNV

NM_020464
NM_001144060

c.G3933A
c.G3921A

p.G1311G
p.G1307G

-

Fu2022 E

NHSL1

SP0051777

chr6:
138752431-138752431

G

A

exonic

De novo

synonymous SNV

NM_020464
NM_001144060

c.C3063T
c.C3051T

p.S1021S
p.S1017S

-

Fu2022 E
Zhou2022 GE

NHSL1

2-1719-003

chr6:
139007270-139007272

ATT

ATTT

intergenic

De novo

-

Yuen2017 G

NHSL1

SP0093063

chr6:
138768159-138768159

C

T

exonic

De novo

nonsynonymous SNV

NM_001144060
NM_020464

c.G511A
c.G655A

p.V171M
p.V219M

25.4

4.608E-5

Fu2022 E
Zhou2022 GE

NHSL1

1-0329-004

chr6:
138862279-138862279

G

A

intronic

De novo

-

Yuen2017 G

NHSL1

1-0965-003

chr6:
138932663-138932663

C

T

intergenic

De novo

-

Yuen2017 G

NHSL1

2-1261-003

chr6:
138940547-138940547

C

A

intergenic

De novo

-

Yuen2017 G

NHSL1

SP0025824

chr6:
138750916-138750916

G

A

exonic

De novo

synonymous SNV

NM_020464
NM_001144060

c.C4029T
c.C4017T

p.D1343D
p.D1339D

-

9.144E-5

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

NHSL1

12991.p1

chr6:
138754215-138754215

C

T

exonic

De novo

nonsynonymous SNV

NM_020464
NM_001144060

c.G1279A
c.G1267A

p.E427K
p.E423K

26.8

9.21E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

NHSL1

1-0345-003

chr6:
138803819-138803819

A

G

intronic

De novo

-

Yuen2017 G

NHSL1

14178.p1

chr6:
138874226-138874226

T

G

intronic

De novo

-

Werling2018 G

NHSL1

12198.p1

chr6:
138752927-138752927

T

A

exonic

De novo

nonsynonymous SNV

NM_020464
NM_001144060

c.A2567T
c.A2555T

p.Y856F
p.Y852F

21.7

-

Ji2016 E

NHSL1

AU3175302

chr6:
138976317-138976317

T

G

intergenic

De novo

-

Yuen2017 G

NHSL1

11729.p1

chr6:
138851991-138851991

G

A

intronic

De novo

-

Wilfert2021 G

NHSL1

AU2162302

chr6:
138874368-138874368

G

A

intronic

De novo

-

Yuen2017 G

NHSL1

AU2485305

chr6:
138918548-138918548

G

C

intergenic

De novo

-

Yuen2017 G

NHSL1

AU066818

chr6:
139005655-139005655

G

A

intergenic

De 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 notes	View
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