Variant #0000257463 (NC_000023.10:g.129271132T>C, AIFM1(NM_004208.3):c.996A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.129271132T>C
DNA change (hg38) g.130137157T>C
Published as AIFM1(NM_004208.3):c.996A>G (p.Q332=)
ISCN -
DB-ID AIFM1_000015
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) 0.00972 View details
Owner VKGL-NL_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIFM1 NM_004208.3 -/. - c.996A>G r.(?) p.(Gln332=)