Variant #0000261805 (NC_000010.10:g.90707168G>A, FAS(NM_000043.4):c.-43466G>A)

Chromosome 10
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.90707168G>A
DNA change (hg38) g.88947411G>A
Published as ACTA2(NM_001613.2):c.130-25C>T
ISCN -
DB-ID ACTA2_000078
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAS NM_000043.4 -/. - c.-43466G>A r.(?) p.(=)
ACTA2 NM_001613.2 -/. - c.130-25C>T r.(=) p.(=)
STAMBPL1 NM_020799.3 -/. - c.*24187G>A r.(=) p.(=)