Variant #0000834524 (NC_000017.10:g.79990310T>C, NM_005052.2:c.83T>C (RAC3))

Individual ID 00400075
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.79990310T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID RAC3_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcello Scala
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marcello Scala
Date created 2022-01-24 13:03:52 +01:00 (CET)
Date last edited 2022-01-24 13:28:45 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAC3 NM_005052.2 +/. - c.83T>C r.(?) p.(Phe28Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000401318 DNA SEQ-NG - - RAC3 1 Marcello Scala


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