Variant #0000258377 (NC_000007.13:g.65548162G>A, ASL(NM_000048.3):c.446+1G>A)

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.65548162G>A
DNA change (hg38) g.66083175G>A
Published as ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A
ISCN -
DB-ID ASL_000018 See all 19 reported entries
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) 5.0E-5 View details
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 2020-06-22 18:11:50 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ASL NM_000048.3 +/. - c.446+1G>A r.spl? p.?