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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_1007chr13:
101997818-101997818
TCintronicDe novo--Satterstrom2020 E
NALCN     AU038203 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
NALCN     AU3702307chr13:
101854868-101854873
TCACACTCACintronicDe novo--Yuen2017 G
NALCN     1-0186-004chr13:
101873007-101873007
GTintronicDe novo--Yuen2017 G
NALCN     MR432chr13:
101844265-101844265
CTintronicDe novo--Satterstrom2020 E
NALCN     11252.p1chr13:
101982247-101982247
GAintronicDe novo--Turner2016 G
NALCN     1-0683-004chr13:
101773153-101773153
GAintronicDe novo--Yuen2017 G
NALCN     2-1363-003chr13:
101759209-101759209
ACintronicDe novo--Yuen2016 G
Yuen2017 G
NALCN     AU3760302chr13:
102069995-102069995
CGintergenicDe novo--Yuen2017 G
NALCN     SSC02254chr13:
101890181-101890181
GAexonicDe novosynonymous SNVNM_052867c.C1359Tp.F453F-8.242E-6Lim2017 E
NALCN     SP0011385chr13:
101763488-101763488
CTexonicDe novononsynonymous SNVNM_052867c.G2282Ap.R761H29.21.649E-5Feliciano2019 E
NALCN     07C70644chr13:
101944705-101944705
ACexonicDe novononsynonymous SNVNM_052867c.T812Gp.F271C21.7-Satterstrom2020 E
NALCN     08C73990chr13:
101797165-101797165
GAexonicDe novononsynonymous SNVNM_052867c.C1922Tp.P641L23.8-Satterstrom2020 E
NALCN     1-0534-003chr13:
101987607-101987607
GAintronicDe novo--Yuen2017 G
NALCN     2-1290-004chr13:
101784074-101784074
GTintronicDe novo--Yuen2017 G
NALCN     1-0232-004chr13:
101803876-101803876
TCintronicDe novo--Yuen2017 G
NALCN     AU079204chr13:
101976423-101976423
AGintronicDe novo--Yuen2017 G
NALCN     11000.p1chr13:
101890181-101890181
GAexonicMosaic, De novosynonymous SNVNM_052867c.C1359Tp.F453F-8.242E-6Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
NALCN     JASD_Fam0014chr13:
101944423-101944423
AGexonicDe novononsynonymous SNVNM_052867c.T965Cp.I322T7.823-Takata2018 E
NALCN     JASD_Fam0114chr13:
101795438-101795438
TGexonicDe novononsynonymous SNVNM_052867c.A2111Cp.D704A10.06-Takata2018 E
NALCN     AU3787303chr13:
101718777-101718777
CTintronicDe novo--Yuen2017 G
NALCN     AU038703chr13:
101818503-101818503
TCintronicDe novo--Yuen2017 G
NALCN     AU2165301chr13:
101905184-101905184
GAintronicDe novo--Yuen2017 G
NALCN     2-1366-004chr13:
102063247-102063247
AGintronicDe 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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