Genomic variant #0000261812

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.90701079G>C
DNA change (hg38) g.88941322G>C
Published as ACTA2(NM_001141945.1):c.523C>G (p.H175D), ACTA2(NM_001613.2):c.523C>G (p.H175D)
ISCN -
DB-ID ACTA2_000039 See all 2 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) 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.-49555G>C r.(?) p.(=)
ACTA2 NM_001613.2 ?/. - c.523C>G r.(?) p.(His175Asp)
STAMBPL1 NM_020799.3 ?/. - c.*18098G>C r.(=) p.(=)