Genomic variant #0000421002

Individual ID 00195735
Chromosome 2
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.47630379G>T
DNA change (hg38) g.47403240G>T
Published as V17F
ISCN -
DB-ID MSH2_000059 See all 7 reported entries
Variant remarks {GR:438}
Reference PubMed: Chao 2008
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Rolf Sijmons
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 ?/. 1 c.49G>T r.(?) p.(Val17Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196705 DNA SEQ - - MSH2 1 Rolf Sijmons