Variant #0000654677 (NC_000002.11:g.48010355G>T, MSH6(NM_000179.2):c.-18G>T)

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.48010355G>T
DNA change (hg38) g.47783216G>T
Published as MSH6(NM_000179.2):c.-18G>T
ISCN -
DB-ID MSH6_000006 See all 7 reported entries
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) 0.00031 View details
Owner VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 -?/. - c.-18G>T r.(?) p.(=)
FBXO11 NM_001190274.1 -?/. - c.*24902C>A r.(=) p.(=)