Variant #0000003198 (NC_000015.10:g.55205623G>A, RAB27A(NM_183235.3):c.550C>T)

Individual ID 00000832
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.55205623G>A
Published as RAB27A c.550C>T
Reference Intan Juliana Abd Hamid et al. (2020)
DB-ID RAB27A_000001 See all 2 reported entries
dbSNP ID rs200956636
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Noorzalifah Binti Mazuki
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Noorzalifah Binti Mazuki
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
RAB27A NM_183235.3 +/. - c.550C>T RAB27A c.550C>T r.(?) p.(Arg184*) ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000947 DNA ? RAB27A 1 Noorzalifah Binti Mazuki