Variant #0000674014 (NC_000023.10:g.19371241C>G, PDHA1(NM_000284.3):c.460C>G)

Individual ID 00306238
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.19371241C>G
DNA change (hg38) g.19353123C>G
Published as -
ISCN -
DB-ID PDHA1_000040
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 Yan Cai
Database submission license No license selected
Created by Yan Cai
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 +?/. - c.460C>G r.spl p.(His154Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307376 DNA SEQ-NG - WES PDHA1 1 Yan Cai