Genomic variant #0000694637

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.77455227C>T
Reference -
DB-ID CTDP1_000012
dbSNP ID rs115044443
Frequency 0.017
Allele Count 9
Allele Number 516
Combined Depth 8719
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02668 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTDP1 NM_004715.4 ./. - c.317C>T r.(?) p.(Ala106Val)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin