chr2:47429875:T> Detail (hg38) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,657,014-47,657,014 
hg38 chr2:47,429,875-47,429,875

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.1210delT NP_000242.1:p.Cys404ValfsTer8
NM_001258281.1:c.1012delT NP_001245210.1:p.Cys338ValfsTer8
Ensemble ENST00000233146.7:c.1210delT ENST00000233146.7:p.Cys404ValfsTer8
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 609309 OMIM
HGNC 7325 HGNC
Ensembl ENSG00000095002 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-09-16 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.1210del (p.Cys404fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587782777 dbSNP
Genome
hg38
Position
chr2:47,429,875-47,429,875
Variant Type
snv
Reference Allele
T
Alternative Allele
-
Genome browser