Variant #0000040953 (NC_000006.11:g.35426198G>A, FANCE(NM_021922.2):c.1094G>A)

Individual ID 00020231
Chromosome 6
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.35426198G>A
DNA change (hg38) g.35458421G>A
Published as -
ISCN -
DB-ID FANCE_000005
Variant remarks -
Reference PubMed: Seal et al 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Arleen D. Auerbach
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCE NM_021922.2 ?/. 5 c.1094G>A r.(?) p.(Arg365Lys) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000020228 DNA SEQ - - FANCE 1 Arleen D. Auerbach