Variant #0000578071 (NC_000006.11:g.31711970C>T, NM_002441.4:c.541C>T (MSH5))

Individual ID 00248213
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.31711970C>T
DNA change (hg38) g.31744193C>T
Published as -
ISCN -
DB-ID MSH5_000001
Variant remarks -
Reference PubMed: Lhota 2016
ClinVar ID -
dbSNP ID rs147515280
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00014 View details
Owner Zdenek Kleibl
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-12-04 13:41:45 +01:00 (CET)
Date last edited 2024-09-14 07:16:09 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH5 NM_002441.4 +?/. - c.541C>T r.(?) p.(Arg181*)
MSH5-SAPCD1 NR_037846.1 +?/. - n.720C>T r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249318 DNA SEQ-NG-S blood 581 gene panel - 1 Zdenek Kleibl


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