Genomic variant #0000694654

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.77464813C>T
Reference -
DB-ID CTDP1_000029
dbSNP ID rs149796311
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 9106
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00054 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTDP1 NM_004715.4 ./. - c.668C>T r.(?) p.(Thr223Met)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin