Genomic variant #0000444424

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.70851542C>T
Reference -
DB-ID SGPL1_000002
dbSNP ID rs1095661
Frequency 0.0206
Homozygous 0
Heterozygote 14
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+332C>T - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin