Variant #0000888828 (NC_000009.11:g.35077267_35077273del, FANCG(NM_004629.1):c.637_643del)

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35077267_35077273del
DNA change (hg38) -
Published as -
ISCN -
DB-ID FANCG_000037 See all 14 reported entries
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCG NM_004629.1 +/. - c.637_643del r.(?) p.(Tyr213Lysfs*6) -
VCP NM_007126.3 +/. - c.-4920_-4914del r.(?) p.(=) -