Genomic variant #0000031799

Individual ID 00021626
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.241665852T>G
Reference -
DB-ID FH_000015 See all 3 reported entries
dbSNP ID rs200796606
Variant remarks 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 0.00052
Allele Count 3
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.1127A>C r.(?) p.(Gln376Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001822 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou