Variant #0000642566 (NC_000023.10:g.129270685T>C, AIFM1(NM_004208.3):c.1097A>G)

Individual ID 00285674
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.129270685T>C
DNA change (hg38) g.130136710T>C
Published as -
ISCN -
DB-ID AIFM1_000040 See all 2 reported entries
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) 4.0E-5 View details
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIFM1 NM_004208.3 +?/+? 11 c.1097A>G r.(?) p.(Asn366Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286824 DNA ? - - AIFM1 1 Global Variome, with Curator vacancy