View genomic variant #0000000120

Chromosome 15
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(48829845_48888553)_(48938908_?)del
Reference -
DB-ID FBN1_000002
Frequency -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Florian Bayersdorfer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FBN1 NM_000138.4 ./+? 1_6i c.-1318_465del r.? p.?