Variant #0000619002 (NC_000023.10:g.129273804G>A, AIFM1(NM_004208.3):c.824C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.129273804G>A
DNA change (hg38) g.130139829G>A
Published as AIFM1(NM_001130847.3):c.824C>T (p.A275V)
ISCN -
DB-ID AIFM1_000041
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIFM1 NM_004208.3 ?/. - c.824C>T r.(?) p.(Ala275Val)