Variant #0000854145 (NC_000015.9:g.67546969T>C, IQCH(NM_001031715.2):c.-266T>C)

Chromosome 15
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.67546969T>C
DNA change (hg38) -
Published as AAGAB(NM_024666.5):c.1A>G (p.M1?)
ISCN -
DB-ID IQCH_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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 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.-266T>C r.(?) p.(=)
AAGAB NM_024666.3 +?/. - c.1A>G r.(?) p.(Met1?)