Genomic variant #0000556145

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.92336775T>C
Reference -
DB-ID FBLN5_000004
dbSNP ID rs929608
Frequency 0.403
Allele Count 200
Allele Number 496
Combined Depth 1403
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.41089 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FBLN5 NM_006329.3 ./. - c.1186-46A>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin