Genomic variant #0000556191

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.92413222A>C
Reference -
DB-ID FBLN5_000050
dbSNP ID rs117567118
Frequency 0.05
Allele Count 26
Allele Number 516
Combined Depth 5710
Homozygous -
Heterozygote -
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     
FBLN5 NM_006329.3 ./. - c.17+335T>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin