Variant #0000682093 (NC_000023.10:g.129290514G>C, AIFM1(NM_004208.3):c.170C>G)

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.129290514G>C
DNA change (hg38) -
Published as AIFM1(NM_001130847.3):c.170C>G (p.S57C, p.(Ser57Cys))
ISCN -
DB-ID AIFM1_000025 See all 3 reported entries
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) 8.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIFM1 NM_004208.3 ?/. - c.170C>G r.(?) p.(Ser57Cys)