Genomic variant #0000259901

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.90701164C>T
DNA change (hg38) -
Published as ACTA2(NM_001141945.1):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A
ISCN -
DB-ID ACTA2_000044 See all 3 reported entries
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) 0.004 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FAS NM_000043.4 -/. - c.-49470C>T benign r.(?) p.(=)
ACTA2 NM_001613.2 -/. - c.455-17G>A benign r.(=) p.(=)
STAMBPL1 NM_020799.3 -/. - c.*18183C>T benign r.(=) p.(=)