Variant #0000341808 (NC_000015.9:g.67528398G>A, IQCH(NM_001031715.2):c.-18837G>A)

Chromosome 15
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.67528398G>A
DNA change (hg38) g.67236060G>A
Published as AAGAB(NM_024666.5):c.370C>T (p.R124*)
ISCN -
DB-ID AAGAB_000002 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) 2.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IQCH NM_001031715.2 +/. - c.-18837G>A r.(?) p.(=)
AAGAB NM_024666.3 +/. - c.370C>T r.(?) p.(Arg124Ter)