Variant #0000224429 (NC_000004.11:g.52895939_52895942del, SGCB(NM_000232.4):c.334_337del)

Individual ID 00133614
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.52895939_52895942del
DNA change (hg38) g.52029773_52029776del
Published as -
ISCN -
DB-ID SGCB_000080 See all 2 reported entries
Variant remarks -
Reference PubMed: Trabelsi 2008
ClinVar ID -
dbSNP ID -
Origin Germline
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 +/. 3 c.334_337del r.(?) p.(Gln112Tyrfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134451 DNA SEQ - - SGCA 2 Johan den Dunnen