Variant #0000172386 (NC_000001.10:g.229567767T>A, ACTA1(NM_001100.3):c.782A>T)

Individual ID 00106203
Chromosome 1
Allele Maternal (confirmed)
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.229567767T>A
DNA change (hg38) g.229432020T>A
Published as Glu259Val
ISCN -
DB-ID ACTA1_000097 See all 3 reported entries
Variant remarks Autosomal recessive
Reference PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, OMIM:var0005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0 View details
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.782A>T r.(?) p.(Glu261Val) GAG > GTG



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106672 DNA SEQ - - ACTA1 2 Kristen Nowak