Genomic variant #0000537673

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.91928481A>G
Reference -
DB-ID FBLN5_000041
dbSNP ID rs2430374
Frequency 0.5721
Homozygous 110
Heterozygote 168
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.379+8466T>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin