Variant #0000842217 (NC_000022.10:g.19711633C>A, GP1BB(NM_000407.4):c.267C>A)

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.19711633C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID GP1BB_000049
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner MobiDetails
Database submission license No license selected
Created by MobiDetails
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GP1BB NM_000407.4 +?/. - c.267C>A r.(?) p.(Asn89Lys)