Variant #0000257462 (NC_000023.10:g.129272596G>A, AIFM1(NM_004208.3):c.939C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.129272596G>A
DNA change (hg38) g.130138621G>A
Published as AIFM1(NM_001130847.3):c.939C>T (p.S313=)
ISCN -
DB-ID AIFM1_000017 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner VKGL-NL_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIFM1 NM_004208.3 -?/. - c.939C>T r.(?) p.(Ser313=)