Variant #0000292402 (NC_000003.11:g.38182737G>T, ACAA1(NM_001607.3):c.-4211C>A)

Chromosome 3
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.38182737G>T
DNA change (hg38) g.38141246G>T
Published as MYD88(NM_001172567.1):c.914G>T (p.W305L)
ISCN -
DB-ID MYD88_000003
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACAA1 NM_001607.3 ?/. - c.-4211C>A r.(?) p.(=)
MYD88 NM_002468.4 ?/. - c.890G>T r.(?) p.(Trp297Leu)
DLEC1 NM_007337.2 ?/. - c.*18641G>T r.(=) p.(=)