Variant #0000608014 (NC_000002.11:g.48010475G>C, MSH6(NM_000179.2):c.103G>C)

Chromosome 2
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.48010475G>C
DNA change (hg38) g.47783336G>C
Published as MSH6(NM_000179.2):c.103G>C (p.A35P)
ISCN -
DB-ID MSH6_001255
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_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 -?/. - c.103G>C r.(?) p.(Ala35Pro)
FBXO11 NM_001190274.1 -?/. - c.*24782C>G r.(=) p.(=)