Genomic variant #0000458475

Individual ID 00000001
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.92079697C>T
Reference -
DB-ID SPTLC1_000009
dbSNP ID rs10820938
Frequency 0.1132
Homozygous 8
Heterozygote 61
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPTLC1 NM_006415.3 ./. - c.427+319G>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin