Variant #0000282972 (NC_000009.11:g.35075022C>T, FANCG(NM_004629.1):c.1538G>A)

Chromosome 9
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.35075022C>T
DNA change (hg38) g.35075025C>T
Published as FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q), FANCG(NM_004629.2):c.1538G>A (p.R513Q)
ISCN -
DB-ID FANCG_000040 See all 5 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) 0.00838 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCG NM_004629.1 -/. - c.1538G>A r.(?) p.(Arg513Gln) -
VCP NM_007126.3 -/. - c.-2672G>A r.(?) p.(=) -