Variant #0000267994 (NC_000003.11:g.10138069T>G, NM_001018115.1:c.4098T>G (FANCD2))

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10138069T>G
DNA change (hg38) g.10096385T>G
Published as FANCD2(NM_033084.6):c.4098T>G (p.L1366=), FANCD2OS(NM_173472.2):c.*43+7813A>C
ISCN -
DB-ID FANCD2_000094
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.18037 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCD2 NM_001018115.1 -/. - c.4098T>G r.(?) p.(Leu1366=) -
FANCD2OS NM_173472.1 -/. - c.*43+7813A>C r.(=) p.(=) -


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