Variant #0000304426 (NC_000020.10:g.57290347C>A, NPEPL1(NM_024663.3):c.1537C>A)

Chromosome 20
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.57290347C>A
DNA change (hg38) g.58715291C>A
Published as NPEPL1(NM_024663.4):c.1537C>A (p.L513M)
ISCN -
DB-ID NPEPL1_000001
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) 0.00087 View details
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     
STX16 NM_001001433.2 -/. - c.*39000C>A r.(=) p.(=)
STX16 NM_003763.5 -/. - c.*39000C>A r.(=) p.(=)
NPEPL1 NM_024663.3 -/. - c.1537C>A r.(?) p.(Leu513Met)
STX16-NPEPL1 NR_037945.1 -/. - n.3495C>A r.(?) -