Genomic variant #0000172478

Individual ID 00106292
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.229567755T>A
DNA change (hg38) g.229432008T>A
Published as -
ISCN -
DB-ID ACTA1_000098
Variant remarks -
Reference PubMed: Nowak et al, 1999, PubMed: Buxmann et al, 2001, PubMed: Sparrow et al, 2003
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Kristen Nowak
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Codon change     
ACTA1 NM_001100.3 +/+ 5 c.794A>T r.(?) p.(Gln265Leu) CAG > CTG



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106761 DNA SEQ - - ACTA1 1 Kristen Nowak