Variant #0000006673 (NC_000001.11:g.241500603_241500604dup, FH(NM_000143.3):c.1237-14_1237-13dup)

Individual ID 00001089
Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.241500603_241500604dup
Reference -
DB-ID FH_000003
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
FH NM_000143.3 -?/-? 8i c.1237-14_1237-13dup p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001301 DNA SEQ-NG CEMIC - 25-mar-2019 Multigenetic panel DICER1, FH, FLCN, MET, PTEN, TP53, TSC1, TSC2, VHL 10 Pablo Kalfayan-Hospital Italiano