Genomic variant #0000581952

Individual ID 00000001
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.57552076C>T
Reference -
DB-ID KIF5A_000002
dbSNP ID rs1148551
Frequency 0.1809
Homozygous 6
Heterozygote 111
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIF5A NM_004984.2 ./. - c.129+1676C>T - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin