Genomic variant #0000410027

Individual ID 00000001
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.72617346del
Reference -
DB-ID SGPL1_000019
dbSNP ID rs140087696
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 4879
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00407 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGPL1 NM_003901.3 ./. - c.410-25del r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin