Variant #0000292401 (NC_000003.11:g.38180227C>G, ACAA1(NM_001607.3):c.-1701G>C)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.38180227C>G
DNA change (hg38) g.38138736C>G
Published as MYD88(NM_001172567.1):c.75C>G (p.A25=)
ISCN -
DB-ID MYD88_000002
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) 0.00114 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACAA1 NM_001607.3 -/. - c.-1701G>C r.(?) p.(=)
MYD88 NM_002468.4 -/. - c.75C>G r.(?) p.(Ala25=)
DLEC1 NM_007337.2 -/. - c.*16131C>G r.(=) p.(=)