Genomic variant #0000054367

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.160165246C>G
Reference -
DB-ID CASQ1_000025
dbSNP ID rs78149381
Frequency 0.00969
Allele Count 5
Allele Number 516
Combined Depth 9269
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00077 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASQ1 NM_001231.4 ./. - c.578-5C>G r.spl? p.?



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin