Genomic variant #0000541490

Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.90707094G>T
DNA change (hg38) -
Published as ACTA2(NM_001141945.1):c.179C>A (p.A60E)
ISCN -
DB-ID FAS_000058
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
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.-43540G>T likely pathogenic r.(?) p.(=)
ACTA2 NM_001613.2 +?/. - c.179C>A likely pathogenic r.(?) p.(Ala60Glu)
STAMBPL1 NM_020799.3 +?/. - c.*24113G>T likely pathogenic r.(=) p.(=)