Genomic variant #0000172436

Individual ID 00106253
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.229568082C>T
DNA change (hg38) g.229432335C>T
Published as -
ISCN -
DB-ID ACTA1_000065
Variant remarks -
Reference PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004
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 Alan Beggs




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Codon change     
ACTA1 NM_001100.3 +/+ 4 c.551G>A - r.(?) p.(Gly184Asp) GGC > GAC



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106722 DNA SEQ - - ACTA1 1 Alan Beggs