Genomic variant #0000410049

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.72636450T>G
Reference -
DB-ID SGPL1_000041
dbSNP ID rs923177
Frequency 0.694
Allele Count 358
Allele Number 516
Combined Depth 6296
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.73212 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGPL1 NM_003901.3 ./. - c.1566+32T>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin