Genomic variant #0000556148

Individual ID 00000001
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.92343894G>A
Reference -
DB-ID FBLN5_000007
dbSNP ID rs145515678
Frequency 0.027
Allele Count 14
Allele Number 516
Combined Depth 6806
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01653 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FBLN5 NM_006329.3 ./. - c.1122C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin