chr3:37092052:CACA> Detail (hg19) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,092,052-37,092,055
hg38 chr3:37,050,561-37,050,564 

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.2179_2182delCACA NP_000240.1:p.His727PhefsTer55
NM_001167617.1:c.1885_1888delCACA NP_001161089.1:p.His629PhefsTer55
NM_001167618.1:c.1456_1459delCACA NP_001161090.1:p.His486PhefsTer?
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.329 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET 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
rs267607898 dbSNP
Genome
hg19
Position
chr3:37,092,052-37,092,055
Variant Type
snv
Reference Allele
CACA
Alternative Allele
-
Genome browser