Genomic variant #0000410024

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.72617276G>T
Reference -
DB-ID SGPL1_000016
dbSNP ID rs1308551751
Frequency 0.00969
Allele Count 5
Allele Number 516
Combined Depth 4542
Homozygous 0
Heterozygote 5
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGPL1 NM_003901.3 ./. - c.410-95G>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin