Genomic variant #0000250459

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.90707936A>G
DNA change (hg38) -
Published as ACTA2(NM_001141945.1):c.129+623T>C
ISCN -
DB-ID ACTA2_000080
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FAS NM_000043.4 -?/. - c.-42698A>G likely benign r.(?) p.(=)
ACTA2 NM_001613.2 -?/. - c.129+623T>C likely benign r.(=) p.(=)
STAMBPL1 NM_020799.3 -?/. - c.*24955A>G likely benign r.(=) p.(=)