Variant #0000076100 (NC_000012.11:g.32883953G>A, DNM1L(NM_001278464.1):c.1124G>A)

Individual ID 00047314
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.32883953G>A
DNA change (hg38) g.32731019G>A
Published as -
ISCN -
DB-ID DNM1L_000001
Variant remarks changes conserved residue in middle (oligomerization) domain of protein
Reference PubMed: Vanstone 2016, Journal: Vanstone 2016, OMIM:var0002
ClinVar ID -
dbSNP ID rs879255685
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 Matthew Lines
Database submission license No license selected
Created by Matthew Lines
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNM1L NM_001278464.1 +/. - c.1124G>A r.(?) p.(Gly375Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047412 DNA SEQ-NG-I - - DNM1L 1 Matthew Lines