Genomic variant #0000172386

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) 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.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