Variant #0000660607 (NC_000023.10:g.99920309del, SRPX2(NM_014467.2):c.602del)

Individual ID 00296794
Chromosome X
Allele Maternal (confirmed)
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.99920309del
DNA change (hg38) g.100665312del
Published as -
ISCN -
DB-ID SRPX2_000059
Variant remarks variant most likely inherited from asymptomatic maternal grandfather (not available)
Reference PubMed: Redin 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
SRPX2 NM_014467.2 ?/. - c.602del r.(?) p.(Ala201Valfs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297904 DNA SEQ - - SRPX2 1 Johan den Dunnen