Variant Results

or

Results for "NFAM1"

Variant Events: 12

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

NFAM1

AU050704

chr22:
42865631-42865636

AAGATA

AA

intergenic

De novo

-

Yuen2017 G

NFAM1

SSC11438

chr22:
42805532-42805532

G

A

exonic

De novo

nonsynonymous SNV

NM_145912

c.C473T

p.P158L

15.82

1.756E-5

Fu2022 E
Trost2022 G

NFAM1

2-1173-003

chr22:
42779761-42779761

C

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

NFAM1

AU3866301

chr22:
42869259-42869259

G

A

intergenic

De novo

-

Yuen2017 G

NFAM1

1-0286-004

chr22:
42824687-42824687

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFAM1

14354.p1

chr22:
42805532-42805532

G

A

exonic

De novo

nonsynonymous SNV

NM_145912

c.C473T

p.P158L

15.82

1.756E-5

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

NFAM1

1-1129-003

chr22:
42833271-42833271

C

T

intergenic

De novo

-

Trost2022 G

NFAM1

7-0149-003

chr22:
42823369-42823372

GGAC

G

intronic

De novo

-

Trost2022 G

NFAM1

MT_99.3

chr22:
42808847-42808847

G

A

intronic

De novo

-

Trost2022 G

NFAM1

MSSNG00039-004

chr22:
42807439-42807439

C

T

exonic

De novo

nonsynonymous SNV

NM_145912

c.G425A

p.G142D

11.63

-

Trost2022 G

NFAM1

MSSNG00344-003

chr22:
42802728-42802728

C

T

intronic

De novo

-

Trost2022 G

NFAM1

7-0464-003

chr22:
42787680-42787680

G

A

intronic

De novo

-

Trost2022 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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