Genomic variant #0000694687

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.77477515C>T
Reference -
DB-ID CTDP1_000062
dbSNP ID rs8084175
Frequency 0.126
Allele Count 65
Allele Number 516
Combined Depth 4244
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.13134 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTDP1 NM_004715.4 ./. - c.2069-20C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin