Variant #0000401086 (NC_000023.10:g.101971960C>T, GPRASP2(NM_138437.5):c.2163C>T)

Individual ID 00173285
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101971960C>T
DNA change (hg38) g.102717032C>T
Published as S721S
ISCN -
DB-ID GPRASP2_000003
Variant remarks recurrent, found 2 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00793 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GPRASP2 NM_138437.5 -?/. - c.2163C>T r.(?) p.(Ser721=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174168 DNA SEQ - - IRAK1 1 Lucy Raymond