Variant #0000258820 (NC_000015.9:g.67528374T>G, IQCH(NM_001031715.2):c.-18861T>G)

Chromosome 15
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.67528374T>G
DNA change (hg38) g.67236036T>G
Published as AAGAB(NM_001271886.2):c.67A>C (p.I23L)
ISCN -
DB-ID AAGAB_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) 0.36999 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IQCH NM_001031715.2 -/. - c.-18861T>G r.(?) p.(=)
AAGAB NM_024666.3 -/. - c.394A>C r.(?) p.(Ile132Leu)