Genomic variant #0000383936

Individual ID 00000001
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.130258380C>T
Reference -
DB-ID LRSAM1_000062
dbSNP ID rs75171318
Frequency 0.025
Allele Count 13
Allele Number 516
Combined Depth 6516
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.0213 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRSAM1 NM_138361.5 ./. - c.1830+6C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin