Genomic variant #0000766237

Individual ID 00000001
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.91943047C>T
Reference -
DB-ID FBLN5_000036
dbSNP ID rs10135192
Frequency 0.0250
Homozygous 0
Heterozygote 17
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FBLN5 NM_006329.3 ./. - c.18-86G>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin