Genomic variant #0000047843

Individual ID 00024999
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.49468597G>T
DNA change (hg38) g.48965340G>T
Published as 32G>T
ISCN -
DB-ID FTL_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: McLeod 2002, OMIM:var0006
ClinVar ID -
dbSNP ID rs398124635
Origin De novo
Segregation -
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.-168G>T - r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025001 DNA SEQ - - FTL 1 Johan den Dunnen