Genomic variant #0000694697

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.77477934G>A
Reference -
DB-ID CTDP1_000072
dbSNP ID rs1223039948
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 9435
Homozygous 0
Heterozygote 1
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTDP1 NM_004715.4 ./. - c.2335G>A r.(?) p.(Gly779Arg)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin