Genomic variant #0000410037

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.72629683G>A
Reference -
DB-ID SGPL1_000029
dbSNP ID rs75121822
Frequency 0.072
Allele Count 37
Allele Number 516
Combined Depth 3367
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.04852 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGPL1 NM_003901.3 ./. - c.810+29G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin