Variant #0000163712 (NC_000012.11:g.32884052C>A, DNM1L(NM_001278464.1):c.1223C>A)

Individual ID 00100785
Chromosome 12
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.32884052C>A
DNA change (hg38) g.32731118C>A
Published as -
ISCN -
DB-ID DNM1L_000006 See all 4 reported entries
Variant remarks variant not in 400 control chromosomes
Reference PubMed: Waterham 2007, Journal: Waterham 2007, OMIM:var0001
ClinVar ID -
dbSNP ID rs121908531
Origin De novo
Segregation yes
Frequency -
Re-site Hpy188I+
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNM1L NM_001278464.1 +/. - c.1223C>A r.(?) p.(Ala408Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101207 DNA SEQ - - DNM1L 1 Johan den Dunnen