Variant #0000619386 (NC_000023.10:g.19377140_19377165dup, PDHA1(NM_000284.3):c.1006_1008+23dup)

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.19377140_19377165dup
DNA change (hg38) g.19359022_19359047dup
Published as PDHA1(NM_000284.3):c.1005_1006insAAGGTACAGTCACTTGTTCATGGTGG (p.?)
ISCN -
DB-ID MAP3K15_000076
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/. - c.1006_1008+23dup r.spl? p.?
MAP3K15 NM_001001671.3 ?/. - c.*1702_*1727dup r.(=) p.(=)