Variant Results

or

Results for "NFASC"

Variant Events: 23

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

NFASC

2-0303-004

chr1:
204888850-204888850

G

A

intronic

De novo

-

Yuen2017 G

NFASC

12687_p1

chr1:
204946815-204946815

A

G

exonic

De novo

nonsynonymous SNV

NM_001160331
NM_001005388

c.A1871G
c.A1838G

p.Q624R
p.Q613R

12.72

-

Fu2022 E

NFASC

AU046904

chr1:
204933726-204933726

G

A

intronic

De novo

-

Yuen2017 G

NFASC

SMHC01660s000

chr1:
204937414-204937416

TCC

T

exonic

De novo

frameshift deletion

NM_001160331
NM_001160333
NM_001005388
NM_001005389
NM_001160332
NM_015090

c.778_779del
c.727_728del
c.745_746del
c.745_746del
c.778_779del
c.778_779del

p.P260fs
p.P243fs
p.P249fs
p.P249fs
p.P260fs
p.P260fs

-

Yuan2023 E

NFASC

2-0320-003

chr1:
204840739-204840739

A

G

intronic

De novo

-

Yuen2017 G

NFASC

1-0436-003

chr1:
204912388-204912388

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NFASC

1-0901-003

chr1:
204876695-204876695

G

A

intronic

De novo

-

Yuen2017 G

NFASC

2-0158-003

chr1:
204986187-204986187

G

A

UTR3

De novo

-

Yuen2017 G

NFASC

AU021204

chr1:
204985266-204985266

G

A

intronic

De novo

-

Yuen2017 G

NFASC

12687.p1

chr1:
204946815-204946815

A

G

exonic

De novo

nonsynonymous SNV

NM_001160331
NM_001005388

c.A1871G
c.A1838G

p.Q624R
p.Q613R

12.72

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

NFASC

1-0524-003

chr1:
204801031-204801031

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NFASC

13298.p1

chr1:
204852436-204852436

T

A

intronic

De novo

-

Turner2016 G

NFASC

13298.p1

chr1:
204852438-204852438

C

G

intronic

De novo

-

Turner2016 G

NFASC

SP0018673

chr1:
204944502-204944502

C

T

exonic

De novo

synonymous SNV

NM_001160331
NM_001160333
NM_001005388
NM_001005389
NM_001160332
NM_015090

c.C1695T
c.C1644T
c.C1662T
c.C1662T
c.C1695T
c.C1695T

p.T565T
p.T548T
p.T554T
p.T554T
p.T565T
p.T565T

8.706

-

Fu2022 E

NFASC

1-0092-003

chr1:
204802344-204802344

T

G

intronic

De novo

-

Yuen2017 G

NFASC

09C87225

chr1:
204978698-204978698

C

T

exonic

De novo

synonymous SNV

NM_001160331
NM_015090
NM_001160332
NM_001005388

c.C3150T
c.C3090T
c.C3105T
c.C3303T

p.N1050N
p.N1030N
p.N1035N
p.N1101N

9.507

-

DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E

NFASC

1-0191-004

chr1:
204837803-204837803

G

A

intronic

De novo

-

Yuen2017 G

NFASC

1339JS0045

chr1:
204978698-204978698

C

T

exonic

De novo

synonymous SNV

NM_001160331
NM_015090
NM_001160332
NM_001005388

c.C3150T
c.C3090T
c.C3105T
c.C3303T

p.N1050N
p.N1030N
p.N1035N
p.N1101N

9.507

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

NFASC

1-0113-003

chr1:
204955245-204955245

A

T

intronic

De novo

-

Yuen2016 G

NFASC

SP0071205

chr1:
204924117-204924117

A

C

intronic

De novo

-

Fu2022 E

NFASC

SP0038399

chr1:
204923253-204923253

T

G

intronic

De novo

-

Fu2022 E

NFASC

AU2433302

chr1:
204886941-204886941

T

A

intronic

De novo

-

Yuen2017 G

NFASC

SP0044668

chr1:
204945733-204945733

A

G

intronic

De novo

-

Fu2022 E

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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