Variant #0000006800 (NC_000009.12:g.95101777A>G, FANCC(NM_000136.2):c.1607T>C)

Individual ID 00001153
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.95101777A>G
Reference -
DB-ID FANCC_000002
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi-Hospital de Córdoba
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)     

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Co_ocurrence     

RNA change     

Review status     
FANCC NM_000136.2 ?/? 15 c.1607T>C p.(Leu536Pro) Hetero no r.(?) -



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001378 DNA CNV;SEQ-NG Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) 15-aug-2019 Multigenetic panel - 2 Norma Rossi-Hospital de Córdoba