Genomic variant #0000694677

Individual ID 00000001
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77474526T>C
Reference -
DB-ID CTDP1_000052
dbSNP ID rs139598569
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 8564
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00369 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTDP1 NM_004715.4 ./. - c.1066T>C r.(?) p.(Ser356Pro)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin