Variant #0000885466 (NC_000003.11:g.10128982_10128984dup, NC_000003.11(NM_001018115.1):c.3466+34_3466+36dup (FANCD2))

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10128982_10128984dup
DNA change (hg38) -
Published as FANCD2(NM_033084.6):c.3466+34_3466+36dupTTT
ISCN -
DB-ID FANCD2_000110
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) Retrieve
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2022-11-01 13:01:21 +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.3466+34_3466+36dup r.(=) p.(=) -
FANCD2OS NM_173472.1 -?/. - c.*44-5753_*44-5751dup r.(=) p.(=) -


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