Variant #0000334860 (NC_000023.10:g.99931103C>T, SRPX2(NM_014467.2):c.*5119C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.99931103C>T
DNA change (hg38) g.100676106C>T
Published as SYTL4(NM_001129896.2):c.1938G>A (p.(Met646Ile))
ISCN -
DB-ID SYTL4_000025 See all 2 reported entries
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) 0.00353 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SRPX2 NM_014467.2 -?/. - c.*5119C>T r.(=) p.(=)
SYTL4 NM_080737.2 -?/. - c.1938G>A r.(?) p.(Met646Ile)