Variant #0000608533 (NC_000003.11:g.38180168_38180186del, ACAA1(NM_001607.3):c.-1654_-1636del)

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.38180168_38180186del
DNA change (hg38) g.38138677_38138695del
Published as MYD88(NM_001172567.1):c.16_34delGCTGAGGCTCCAGGACCGC (p.A6Pfs*39)
ISCN -
DB-ID ACAA1_000008 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACAA1 NM_001607.3 ?/. - c.-1654_-1636del r.(?) p.(=)
MYD88 NM_002468.4 ?/. - c.16_34del r.(?) p.(Ala6ProfsTer39)
DLEC1 NM_007337.2 ?/. - c.*16072_*16090del r.(=) p.(=)