Variant #0000040967 (NC_000006.11:g.35426175C>T, FANCE(NM_021922.2):c.1071C>T)

Individual ID 00020245
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.35426175C>T
DNA change (hg38) g.35458398C>T
Published as -
ISCN -
DB-ID FANCE_000020 See all 2 reported entries
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) 0.03995 View details
Owner Arleen D. Auerbach
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCE NM_021922.2 ?/. 5 c.1071C>T r.(?) p.(Leu357=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000020242 DNA SEQ - - FANCE 1 Arleen D. Auerbach