Variant #0000660627 (NC_000023.10:g.99922289A>G, SRPX2(NM_014467.2):c.980A>G)

Individual ID 00296805
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification pathogenic (!)
DNA change (genomic) (Relative to hg19 / GRCh37) g.99922289A>G
DNA change (hg38) g.100667292A>G
Published as -
ISCN -
DB-ID SRPX2_000018 See all 5 reported entries
Variant remarks not in 554 control chromosomes; later publication questions pathogenicity, true variant in GRIN2A
Reference PubMed: Roll 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00058 View details
Owner Johan den Dunnen
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     
SRPX2 NM_014467.2 +/-? - c.980A>G r.(?) p.(Asn327Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297915 DNA SEQ - - GRIN2A, SRPX2 2 Johan den Dunnen