Genomic variant #0000054391

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.160169773G>A
Reference -
DB-ID CASQ1_000049
dbSNP ID rs12133035
Frequency 0.007752
Allele Count 4
Allele Number 516
Combined Depth 4369
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.0138 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASQ1 NM_001231.4 ./. - c.1059+58G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin