Variant #0000299250 (NC_000003.11:g.50369184C>T, RASSF1(NM_001206957.1):c.113G>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.50369184C>T
DNA change (hg38) g.50331753C>T
Published as RASSF1(NM_007182.5):c.566G>A (p.R189Q)
ISCN -
DB-ID RASSF1_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 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.113G>A r.(?) p.(Arg38Gln)
TUSC2 NM_007275.1 -?/. - c.-3654G>A r.(?) p.(=)