Variant #0000292086 (NC_000002.11:g.48022981G>T, NC_000002.11(NM_000179.2):c.458-52G>T (MSH6))

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48022981G>T
DNA change (hg38) g.47795842G>T
Published as MSH6(NM_000179.2):c.458-52G>T
ISCN -
DB-ID MSH6_000041 See all 14 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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 -/. - c.458-52G>T r.(=) p.(=)
FBXO11 NM_001190274.1 -/. - c.*12276C>A r.(=) p.(=)


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