Variant #0000912788 (NC_000007.13:g.72861640_72861657del, NM_032408.3:c.3804_3821del (BAZ1B))

Chromosome 7
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.72861640_72861657del
DNA change (hg38) -
Published as BAZ1B(NM_032408.4):c.3804_3821delGGAGGAGGAGGAAGAAGA (p.E1268_E1273del)
ISCN -
DB-ID BAZ1B_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BAZ1B NM_032408.3 -?/. - c.3804_3821del r.(?) p.(Glu1268_Glu1273del)


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