Genomic variant #0000054363

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.160164668T>C
Reference -
DB-ID CASQ1_000021
dbSNP ID rs1186693
Frequency 0.977
Allele Count 434
Allele Number 444
Combined Depth 1306
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASQ1 NM_001231.4 ./. - c.466-134T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin