Variant #0000654886 (NC_000003.11:g.38182723C>T, ACAA1(NM_001607.3):c.-4197G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.38182723C>T
DNA change (hg38) g.38141232C>T
Published as MYD88(NM_001172567.1):c.900C>T (p.P300=)
ISCN -
DB-ID ACAA1_000009
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) 5.0E-5 View details
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACAA1 NM_001607.3 -?/. - c.-4197G>A r.(?) p.(=)
MYD88 NM_002468.4 -?/. - c.876C>T r.(?) p.(Pro292=)
DLEC1 NM_007337.2 -?/. - c.*18627C>T r.(=) p.(=)