Genomic variant #0000172395

Individual ID 00106212
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.229568404C>T
DNA change (hg38) g.229432657C>T
Published as -
ISCN -
DB-ID ACTA1_000035
Variant remarks -
Reference 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 Nigel Laing & Kristen Nowak




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Codon change     
ACTA1 NM_001100.3 +/+ 3 c.353G>A - r.(?) p.(Arg118His) CGC > CAC



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106681 DNA SEQ - - ACTA1 1 Nigel Laing & Kristen Nowak