Genomic variant #0000694690

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.77477705G>A
Reference -
DB-ID CTDP1_000065
dbSNP ID rs116621665
Frequency 0.00969
Allele Count 5
Allele Number 516
Combined Depth 9510
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00792 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTDP1 NM_004715.4 ./. - c.2210+29G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin