Variant #0000666048 (NC_000001.10:g.?, NM_001364012.1:c.(-164_-126)insN[(270_540)] (NOTCH2NLC))

Individual ID 00301578
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) g.(149390803_149390841)ins(270_540)
Published as -
ISCN -
DB-ID NOTCH2NLC_000110 See all 28 reported entries
Variant remarks -
Reference PubMed: Ishiura 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-05-19 08:33:30 +02:00 (CEST)
Date last edited 2021-12-15 17:06:51 +01:00 (CET)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2NLC NM_001364012.1 +/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000302703 DNA PCRrp;Southern - - NOTCH2NLC 1 Johan den Dunnen


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