Variant #0000224441 (NC_000004.11:g.(52895088_52895843)?, SGCB(NM_000232.4):c.(429+1_430-1)?)

Individual ID 00133621
Chromosome 4
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(52895088_52895843)?
DNA change (hg38) -
Published as exon 3 SD
ISCN -
DB-ID SGCB_000000
Variant remarks -
Reference PubMed: Crosbie 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 +/. 3i c.(429+1_430-1)? r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134458 DNA SEQ - - SGCA 2 Johan den Dunnen