Genomic variant #0000172385

Individual ID 00106203
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.229568470A>G
DNA change (hg38) g.229432723A>G
Published as Leu94Pro
ISCN -
DB-ID ACTA1_000210 See all 2 reported entries
Variant remarks -
Reference PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Germline
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.287T>C - r.(?) p.(Leu96Pro) CTT > CCT



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106672 DNA SEQ - - ACTA1 2 Nigel Laing & Kristen Nowak