Variant #0000246727 (NC_000008.10:g.62550937del, NC_000008.10(NM_004318.3):c.791-3del (ASPH))

Chromosome 8
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.62550937del
DNA change (hg38) g.61638378del
Published as ASPH(NM_004318.4):c.791-3delT
ISCN -
DB-ID ASPH_000020
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) Retrieve
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ASPH NM_004318.3 -/. - c.791-3del r.spl? p.?
CLVS1 NM_173519.2 -/. - c.*138836del r.(?) p.(=)


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