Variant #0000571322 (NC_000022.10:g.19709831del, GP1BB(NM_000407.4):c.-1262del)

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.19709831del
DNA change (hg38) g.19722308del
Published as SEPT5(NM_001009939.2):c.1038delC (p.*347Efs*29)
ISCN -
DB-ID GP1BB_000042
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GP1BB NM_000407.4 ?/. - c.-1262del r.(?) p.(=)
SEPT5 NM_002688.5 ?/. - c.1022del r.(?) p.(Thr341MetfsTer7)