Genomic variant #0000256614

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.90707139A>C
DNA change (hg38) -
Published as ACTA2(NM_001613.2):c.134T>G (p.V45G)
ISCN -
DB-ID ACTA2_000076
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.-43495A>C VUS r.(?) p.(=)
ACTA2 NM_001613.2 ?/. - c.134T>G VUS r.(?) p.(Val45Gly)
STAMBPL1 NM_020799.3 ?/. - c.*24158A>C VUS r.(=) p.(=)