Variant #0000516239 (NC_000002.11:g.48010474del, MSH6(NM_000179.2):c.102del)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48010474del
DNA change (hg38) g.47783335del
Published as -
ISCN -
DB-ID MSH6_001182
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/. - c.102del r.(?) p.(Ala35ProfsTer46)
FBXO11 NM_001190274.1 +/. - c.*24784del r.(?) p.(=)