Variant #0000224496 (NC_000008.10:g.22865223C>T, NM_001160036.1:c.1531C>T (RHOBTB2))

Individual ID 00133655
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>T
DNA change (hg38) g.23007710C>T
Published as -
ISCN -
DB-ID RHOBTB2_000003 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Bernt Popp
Database submission license No license selected
Created by Bernt Popp
Date created 2017-11-16 12:55:12 +01:00 (CET)
Date last edited 2017-11-17 14:57:09 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RHOBTB2 NM_001160036.1 +?/. - c.1531C>T r.(?) p.(Arg511Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134493 DNA SEQ-NG - - - 1 Bernt Popp


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