Variant #0000520283 (NC_000003.11:g.50369556G>C, RASSF1(NM_001206957.1):c.-67C>G)

Chromosome 3
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.50369556G>C
DNA change (hg38) g.50332125G>C
Published as RASSF1(NM_007182.5):c.387C>G (p.D129E)
ISCN -
DB-ID RASSF1_000010
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) 0.00236 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RASSF1 NM_001206957.1 -/. - c.-67C>G r.(?) p.(=)
TUSC2 NM_007275.1 -/. - c.-4026C>G r.(?) p.(=)