Variant #0000682328 (NC_000023.10:g.19375796_19375799dup, PDHA1(NM_000284.3):c.858_861dup)

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.19375796_19375799dup
DNA change (hg38) -
Published as PDHA1(NM_000284.3):c.858_861dupTTAC (p.R288Lfs*10)
ISCN -
DB-ID PDHA1_000036 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 +/. - c.858_861dup r.(?) p.(Arg288LeufsTer10)
MAP3K15 NM_001001671.3 +/. - c.*3070_*3073dup r.(=) p.(=)