Genomic variant #0000019707

Individual ID 00020026
Chromosome 1
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241661227_241661228insTTT
Reference -
DB-ID FH_000021
dbSNP ID rs367543046
Variant remarks Probably associated with Fumarase deficiency only and not with Leiomyomatosis and renal cell cancer
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FH NM_000143.3 +?/+? - c.1433_1434insAAA r.(?) p.(Lys477dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000675 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou