Variant #0000315746 (NC_000023.10:g.99925869G>A, SRPX2(NM_014467.2):c.1283G>A)

Chromosome X
Allele Unknown
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.99925869G>A
DNA change (hg38) g.100670872G>A
Published as SRPX2(NM_014467.2):c.1283G>A (p.R428Q)
ISCN -
DB-ID SRPX2_000044
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SRPX2 NM_014467.2 ?/. - c.1283G>A r.(?) p.(Arg428Gln)
SYTL4 NM_080737.2 ?/. - c.*5156C>T r.(=) p.(=)