Variant #0000401087 (NC_000023.10:g.101970123G>A, GPRASP2(NM_138437.5):c.326G>A)

Individual ID 00173614
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.101970123G>A
DNA change (hg38) g.102715195G>A
Published as R109H
ISCN -
DB-ID ARMCX5-GPRASP2_000021 See all 2 reported entries
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) 0.00076 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GPRASP2 NM_138437.5 ?/. - c.326G>A r.(?) R109H



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174497 DNA SEQ - - BMX 1 Lucy Raymond