Variant #0000660628 (NC_000023.10:g.99917224A>C, SRPX2(NM_014467.2):c.215A>C)

Individual ID 00296814
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.99917224A>C
DNA change (hg38) g.100662227A>C
Published as -
ISCN -
DB-ID SRPX2_000060
Variant remarks {PMID:Roll 2006:16497722}
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 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.215A>C r.(?) p.(Tyr72Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297924 DNA SEQ - - SRPX2 1 Johan den Dunnen