Variant #0000065306 (NC_000023.10:g.129271115C>T, AIFM1(NM_004208.3):c.1013G>A)

Individual ID 00037763
Chromosome X
Allele Maternal (confirmed)
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.129271115C>T
DNA change (hg38) g.130137140C>T
Published as -
ISCN -
DB-ID AIFM1_000005
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Daria Diodato
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     
AIFM1 NM_004208.3 +/. 10 c.1013G>A r.(?) p.(Gly338Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037996 DNA SEQ - - AIFM1 1 Daria Diodato