Variant #0000575185 (NC_000023.10:g.19369471G>C, PDHA1(NM_000284.3):c.364G>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.19369471G>C
DNA change (hg38) g.19351353G>C
Published as -
ISCN -
DB-ID MAP3K15_000053
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 +?/. - c.364G>C r.(?) p.(Gly122Arg)
MAP3K15 NM_001001671.3 +?/. - c.*9396C>G r.(=) p.(=)