Genomic variant #0000330907

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.70852692A>G
Reference -
DB-ID SGPL1_000003
dbSNP ID rs1338640
Frequency 0.8926
Homozygous 280
Heterozygote 45
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGPL1 NM_003901.3 ./. - c.261+1482A>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin