Genomic variant #0000250464

Chromosome 10
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.90711301A>G
DNA change (hg38) g.88951544A>G
Published as ACTA2(NM_001141945.1):c.-23-2591T>C
ISCN -
DB-ID ACTA2_000093
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAS NM_000043.4 -?/. - c.-39333A>G r.(?) p.(=)
ACTA2 NM_001613.2 -?/. - c.-24+1187T>C r.(=) p.(=)
STAMBPL1 NM_020799.3 -?/. - c.*28320A>G r.(=) p.(=)