Variant #0000075845 (NC_000009.11:g.98006631_98010418delinsAAAAAGTAAATTTAGTT, NC_000009.11(NM_000136.2):c.166-620_250+3083delinsAACTAAATTTACTTTTT (FANCC))

Individual ID 00020322
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.98006631_98010418delinsAAAAAGTAAATTTAGTT
DNA change (hg38) g.95244349_95248136delinsAAAAAGTAAATTTAGTT
Published as hg18 97046452-97050240 insAAAAAGTAAATTTAGTTA del3789
ISCN -
DB-ID FANCC_000069 See all 8 reported entries
Variant remarks -
Reference PubMed: Flynn 2014
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Arleen D. Auerbach
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-08-03 18:06:43 +02:00 (CEST)
Date last edited 2021-12-30 15:32:06 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCC NM_000136.2 +/+ 2i_3i c.166-620_250+3083delinsAACTAAATTTACTTTTT r.? p.(Asp56Metfs*7) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047097 DNA arrayCGH; PCR - - FANCC 1 Arleen D. Auerbach


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