Variant #0000823935 (NC_000004.11:g.(52895088_52895843)_(52904485_?)del, SGCB(NM_000232.4):c.-60_(429+1_430-1){0})

Individual ID 00392030
Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(52895088_52895843)_(52904485_?)del
DNA change (hg38) g.(52028922_52029677)_(52038319_?)del
Published as del ex3-6 (?_-1_429+1_430-1)del
ISCN -
DB-ID SGCB_000162
Variant remarks -
Reference MDCRC 2021, submitted
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Lakshmi Bremadesam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 +?/. 2i_6i c.-60_(429+1_430-1){0} r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393272 DNA SEQ-NG - screened DMD, SGCB, UBA1 - 2 Lakshmi Bremadesam