Variant Results

or

or

Results for "NALCN"

Variant Events: 24

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

NALCN

ASDFI_1007

chr13:
101997818-101997818

T

C

intronic

De novo

-

-

Satterstrom2020 E

NALCN

AU038203

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

NALCN

AU3702307

chr13:
101854868-101854873

TCACAC

TCAC

intronic

De novo

-

-

Yuen2017 G

NALCN

1-0186-004

chr13:
101873007-101873007

G

T

intronic

De novo

-

-

Yuen2017 G

NALCN

MR432

chr13:
101844265-101844265

C

T

intronic

De novo

-

-

Satterstrom2020 E

NALCN

11252.p1

chr13:
101982247-101982247

G

A

intronic

De novo

-

-

Turner2016 G

NALCN

1-0683-004

chr13:
101773153-101773153

G

A

intronic

De novo

-

-

Yuen2017 G

NALCN

2-1363-003

chr13:
101759209-101759209

A

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NALCN

AU3760302

chr13:
102069995-102069995

C

G

intergenic

De novo

-

-

Yuen2017 G

NALCN

SSC02254

chr13:
101890181-101890181

G

A

exonic

De novo

synonymous SNV

NM_052867

c.C1359T

p.F453F

-

Lim2017 E

NALCN

SP0011385

chr13:
101763488-101763488

C

T

exonic

De novo

nonsynonymous SNV

NM_052867

c.G2282A

p.R761H

29.2

Feliciano2019 E

NALCN

07C70644

chr13:
101944705-101944705

A

C

exonic

De novo

nonsynonymous SNV

NM_052867

c.T812G

p.F271C

21.7

-

Satterstrom2020 E

NALCN

08C73990

chr13:
101797165-101797165

G

A

exonic

De novo

nonsynonymous SNV

NM_052867

c.C1922T

p.P641L

23.8

-

Satterstrom2020 E

NALCN

1-0534-003

chr13:
101987607-101987607

G

A

intronic

De novo

-

-

Yuen2017 G

NALCN

2-1290-004

chr13:
101784074-101784074

G

T

intronic

De novo

-

-

Yuen2017 G

NALCN

1-0232-004

chr13:
101803876-101803876

T

C

intronic

De novo

-

-

Yuen2017 G

NALCN

AU079204

chr13:
101976423-101976423

A

G

intronic

De novo

-

-

Yuen2017 G

NALCN

11000.p1

chr13:
101890181-101890181

G

A

exonic

Mosaic, De novo

synonymous SNV

NM_052867

c.C1359T

p.F453F

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

NALCN

JASD_Fam0014

chr13:
101944423-101944423

A

G

exonic

De novo

nonsynonymous SNV

NM_052867

c.T965C

p.I322T

7.823

-

Takata2018 E

NALCN

JASD_Fam0114

chr13:
101795438-101795438

T

G

exonic

De novo

nonsynonymous SNV

NM_052867

c.A2111C

p.D704A

10.06

-

Takata2018 E

NALCN

AU3787303

chr13:
101718777-101718777

C

T

intronic

De novo

-

-

Yuen2017 G

NALCN

AU038703

chr13:
101818503-101818503

T

C

intronic

De novo

-

-

Yuen2017 G

NALCN

AU2165301

chr13:
101905184-101905184

G

A

intronic

De novo

-

-

Yuen2017 G

NALCN

2-1366-004

chr13:
102063247-102063247

A

G

intronic

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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