Variant #0000659487 (NC_000023.10:g.99905862G>C, SRPX2(NM_014467.2):c.163G>C)

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.99905862G>C
DNA change (hg38) g.100650865G>C
Published as SRPX2(NM_014467.2):c.163G>C (p.V55L)
ISCN -
DB-ID SRPX2_000057
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SRPX2 NM_014467.2 ?/. - c.163G>C r.(?) p.(Val55Leu)