Genomic variant #0000694713

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.77513804G>T
Reference -
DB-ID CTDP1_000088
dbSNP ID rs183131657
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 3558
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00531 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTDP1 NM_004715.4 ./. - c.*14G>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin