Genomic variant #0000047839

Individual ID 00024995
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.49468605A>G
DNA change (hg38) g.48965348A>G
Published as 40A>G
ISCN -
DB-ID FTL_000001 See all 3 reported entries
Variant remarks variant in IRE loop; abolished IRP finding in vitro, leads to a high constitutive, poorly regulated L-ferritin synthesis in cultured lymphoblastoid cells
Reference PubMed: Beaumont 1995, OMIM:var0001
ClinVar ID -
dbSNP ID rs398124633
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FTL NM_000146.3 +/. 1 c.-160A>G - r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024997 DNA SEQ - - FTL 1 Johan den Dunnen