Variant #0000058953 (NC_000023.10:g.19375770G>A, PDHA1(NM_000284.3):c.832G>A)

Individual ID 00032713
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.19375770G>A
DNA change (hg38) g.19357652G>A
Published as -
ISCN -
DB-ID PDHA1_000004
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Claudio Asencio Salcedo
Database submission license No license selected
Created by Claudio Asencio Salcedo
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 +/. 9 c.832G>A r.(spl?) p.(Gly278Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000032781 DNA SEQ;SEQ-NG-I - - PDHA1 1 Claudio Asencio Salcedo