Variant #0000682329 (NC_000023.10:g.19377660G>T, PDHA1(NM_000284.3):c.1062G>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.19377660G>T
DNA change (hg38) -
Published as PDHA1(NM_001173454.1):c.1176G>T (p.T392=)
ISCN -
DB-ID MAP3K15_000081
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) 6.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 -?/. - c.1062G>T r.(?) p.(Thr354=)
MAP3K15 NM_001001671.3 -?/. - c.*1207C>A r.(=) p.(=)