Variant #0000063682 (NC_000023.10:g.19373828G>C, PDHA1(NM_000284.3):c.784G>C)

Individual ID 00036487
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.19373828G>C
DNA change (hg38) g.19355710G>C
Published as -
ISCN -
DB-ID PDHA1_000008
Variant remarks analysis of the mother suggests de novo status in the affected patient
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
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     
PDHA1 NM_000284.3 +?/. - c.784G>C r.(?) p.(Val262Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036557 DNA SEQ - - PDHA1 1 Andreas Laner