Variant #0000435082 (NC_000001.10:g.116275527del, NM_001232.3:c.603del (CASQ2))

Individual ID 00204637
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.116275527del
DNA change (hg38) g.115732906del
Published as -
ISCN -
DB-ID CASQ2_000006
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Joel Lunardi
Database submission license No license selected
Created by Joel Lunardi
Date created 2011-04-20 16:39:25 +02:00 (CEST)
Date last edited 2020-06-04 19:11:33 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASQ2 NM_001232.3 +/? 5 c.603del r.(?) p.(Val203Leufs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205666 DNA SEQ - - CASQ2 2 Joel Lunardi


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