Variant #0000130240 (NC_000012.11:g.32866293G>A, DNM1L(NM_001278464.1):c.646G>A)

Individual ID 00081042
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.32866293G>A
DNA change (hg38) g.32713359G>A
Published as -
ISCN -
DB-ID DNM1L_000005
Variant remarks -
Reference PubMed: Trujillano 2017
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Daniel Trujillano
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNM1L NM_001278464.1 +?/. - c.646G>A r.(?) p.(Val216Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081154 DNA SEQ;SEQ-NG - - DNM1L 1 Daniel Trujillano