Variant #0000570036 (NC_000020.10:g.57244396G>A, NPEPL1(NM_024663.3):c.-23561G>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.57244396G>A
DNA change (hg38) g.58669340G>A
Published as STX16(NM_001001433.2):c.443G>A (p.R148Q)
ISCN -
DB-ID NPEPL1_000002
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) 0.03332 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STX16 NM_001001433.2 -/. - c.443G>A r.(?) p.(Arg148Gln)
STX16 NM_003763.5 -/. - c.380G>A r.(?) p.(Arg127Gln)
NPEPL1 NM_024663.3 -/. - c.-23561G>A r.(?) p.(=)
STX16-NPEPL1 NR_037945.1 -/. - n.1197G>A r.(?) -