Variant #0000520284 (NC_000003.11:g.50378154C>T, RASSF1(NM_001206957.1):c.-264G>A)

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.50378154C>T
DNA change (hg38) g.50340723C>T
Published as RASSF1(NM_007182.5):c.83G>A (p.R28H)
ISCN -
DB-ID RASSF1_000011
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) 0.00156 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     
RASSF1 NM_001206957.1 -?/. - c.-264G>A r.(?) p.(=)
ZMYND10 NM_015896.2 -?/. - c.*687G>A r.(=) p.(=)