Variant #0001035674 (NC_000006.11:g.31729621C>T, NM_002441.4:c.2208C>T (MSH5))

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.31729621C>T
DNA change (hg38) -
Published as MSH5(NM_172166.4):c.2208C>T (p.(Asn736=))
ISCN -
DB-ID MSH5_000010
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SAPCD1 NM_001039651.1 ?/. - c.-1211C>T r.(?) p.(=)
MSH5 NM_002441.4 ?/. - c.2208C>T r.(?) p.(=)
VWA7 NM_025258.2 ?/. - c.*3750G>A r.(=) p.(=)
MSH5-SAPCD1 NR_037846.1 ?/. - n.2387C>T r.(?) -


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