Variant #0000621294 (NC_000003.11:g.50382959C>A, RASSF1(NM_001206957.1):c.-5069G>T)

Chromosome 3
Allele Unknown
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.50382959C>A
DNA change (hg38) g.50345528C>A
Published as ZMYND10(NM_015896.4):c.52G>T (p.G18C)
ISCN -
DB-ID CYB561D2_000004
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) 1.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RASSF1 NM_001206957.1 ?/. - c.-5069G>T r.(?) p.(=)
NPRL2 NM_006545.4 ?/. - c.*2078G>T r.(=) p.(=)
CYB561D2 NM_007022.3 ?/. - c.-5548C>A r.(?) p.(=)
ZMYND10 NM_015896.2 ?/. - c.52G>T r.(?) p.(Gly18Cys)