Variant #0000578094 (NC_000003.11:g.50368764C>T, RASSF1(NM_001206957.1):c.423+1G>A)

Individual ID 00248232
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.50368764C>T
DNA change (hg38) g.50331333C>T
Published as NM_170714.1:c.888+1G>A
ISCN -
DB-ID RASSF1_000008
Variant remarks -
Reference PubMed: Lhota 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Zdenek Kleibl
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RASSF1 NM_001206957.1 +?/. - c.423+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249337 DNA SEQ-NG-S blood 581 gene panel - 1 Zdenek Kleibl