chr3:37020409:GCACATCGAGAGCA> Detail (hg38) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,061,900-37,061,913 
hg38 chr3:37,020,409-37,020,422

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.984_997delGCACATCGAGAGCA NP_000240.1:p.His329AlafsTer28
NM_001167617.1:c.690_703delGCACATCGAGAGCA NP_001161089.1:p.His231AlafsTer28
NM_001167618.1:c.261_274delGCACATCGAGAGCA NP_001161090.1:p.His88AlafsTer28
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 120436 OMIM
HGNC 7127 HGNC
Ensembl ENSG00000076242 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 2012-08-14 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2022-09-16 criteria provided, single submitter Hereditary nonpolyposis colon cancer 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_000249.4(MLH1):c.984_997del (p.His329fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.984_997del (p.His329fs) AND Hereditary nonpolyposis colon cancer 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
rs587782265 dbSNP
Genome
hg38
Position
chr3:37,020,409-37,020,422
Variant Type
snv
Reference Allele
GCACATCGAGAGCA
Alternative Allele
-
Genome browser