Genomic variant #0000054356

Individual ID 00000001
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.160163591A>T
Reference -
DB-ID CASQ1_000014
dbSNP ID rs34489853
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 8949
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02184 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASQ1 NM_001231.4 ./. - c.419A>T r.(?) p.(Tyr140Phe)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin