Variant #0000333354 (NC_000023.10:g.19377133A>C, PDHA1(NM_000284.3):c.999A>C)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.19377133A>C
DNA change (hg38) g.19359015A>C
Published as PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D)
ISCN -
DB-ID PDHA1_000023 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00032 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/. - c.999A>C r.(?) p.(Glu333Asp)
MAP3K15 NM_001001671.3 ?/. - c.*1734T>G r.(=) p.(=)