Genomic variant #0000410050

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.72637078C>T
Reference -
DB-ID SGPL1_000042
dbSNP ID rs77130902
Frequency 0.007752
Allele Count 4
Allele Number 516
Combined Depth 9294
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00408 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGPL1 NM_003901.3 ./. - c.1693C>T r.(?) p.(Pro565Ser)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin