Variant #0000642577 (NC_000023.10:g.129281500_129281501delinsAG, AIFM1(NM_004208.3):c.572_573delinsCT)

Individual ID 00285685
Chromosome X
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.129281500_129281501delinsAG
DNA change (hg38) g.130147525_130147526delinsAG
Published as -
ISCN -
DB-ID AIFM1_000064
Variant remarks -
Reference MORL Deafness Variation Database
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIFM1 NM_004208.3 +?/+? 5 c.572_573delinsCT r.(?) p.(Leu191Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286835 DNA ? - - AIFM1 1 Global Variome, with Curator vacancy