Variant #0000809483 (NC_000022.10:g.19711493G>T, GP1BB(NM_000407.4):c.127G>T)

Chromosome 22
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.19711493G>T
DNA change (hg38) -
Published as GP1BB(NM_000407.4):c.127G>T (p.G43W)
ISCN -
DB-ID GP1BB_000004 See all 2 reported entries
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.127G>T r.(?) p.(Gly43Trp)
SEPT5 NM_002688.5 +?/. - c.*1486G>T r.(=) p.(=)