Variant #0000922395 (NC_000008.10:g.22862972C>T, NM_001160036.1:c.346C>T (RHOBTB2))

Individual ID 00434591
Chromosome 8
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.22862972C>T
DNA change (hg38) g.23005459C>T
Published as -
ISCN -
DB-ID RHOBTB2_000021
Variant remarks -
Reference Langhammer 2023
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Franziska Langhammer
Database submission license No license selected
Created by Franziska Langhammer
Date created 2023-04-03 10:56:25 +02:00 (CEST)
Date last edited 2023-04-06 13:15:58 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RHOBTB2 NM_001160036.1 +?/. - c.346C>T r.(?) p.(Arg116Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000436059 DNA SEQ-NG-I - - - 1 Franziska Langhammer


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