Variant #0001016634 (NC_000001.10:g.154229539_154229546del, NM_014847.3:c.2158_2165del (UBAP2L))

Individual ID 00457352
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.154229539_154229546del
DNA change (hg38) g.154257063_154257070del
Published as -
ISCN -
DB-ID UBAP2L_000012
Variant remarks -
Reference PubMed: Jia 2022
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-11-08 11:01:45 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBAP2L NM_014847.3 +/. - c.2158_2165del r.(?) p.(His720CysfsTer4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000458973 DNA SEQ;SEQ-NG - WES-trio - 1 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.