Genomic variant #0000054382

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.160167314T>A
Reference -
DB-ID CASQ1_000040
dbSNP ID rs74123285
Frequency 0.00969
Allele Count 5
Allele Number 516
Combined Depth 9454
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02307 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASQ1 NM_001231.4 ./. - c.783-45T>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin