Genomic variant #0000788268

Individual ID 00000001
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.12107939A>G
Reference -
DB-ID DHTKD1_000005
dbSNP ID rs1722462
Frequency 0.1647
Homozygous 20
Heterozygote 72
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DHTKD1 NM_018706.6 ./. - c.2078A>G - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin