Variant #0000368944 (NC_000008.10:g.22865223C>G, NM_001160036.1:c.1531C>G (RHOBTB2))

Individual ID 00164419
Chromosome 8
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.22865223C>G
DNA change (hg38) g.23007710C>G
Published as -
ISCN -
DB-ID RHOBTB2_000008
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2018-05-17 16:06:47 +02:00 (CEST)
Date last edited 2018-08-01 10:41:55 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RHOBTB2 NM_001160036.1 +?/. - c.1531C>G r.(?) p.(Arg511Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165286 DNA SEQ - - - 1 IMGAG


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