Variant #0000621293 (NC_000003.11:g.50379075G>A, RASSF1(NM_001206957.1):c.-1185C>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.50379075G>A
DNA change (hg38) g.50341644G>A
Published as ZMYND10(NM_015896.3):c.1177C>T (p.R393C)
ISCN -
DB-ID RASSF1_000013
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) 5.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RASSF1 NM_001206957.1 ?/. - c.-1185C>T r.(?) p.(=)
ZMYND10 NM_015896.2 ?/. - c.1177C>T r.(?) p.(Arg393Cys)