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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

MLH1

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?
	NM_001258271.1:c.1972_1975delCACA	NP_001245200.1:p.His658PhefsTer55
	NM_001258274.1:c.1456_1459delCACA	NP_001245203.1:p.His486PhefsTer55
	NM_001258273.1:c.1456_1459delCACA	NP_001245202.1:p.His486PhefsTer55
	NM_001167619.1:c.1456_1459delCACA	NP_001161091.1:p.His486PhefsTer55
Ensemble	ENST00000231790.8:c.2179_2182delCACA	ENST00000231790.8:p.His727PhefsTer55
	ENST00000435176.5:c.1885_1888delCACA	ENST00000435176.5:p.His629PhefsTer55
	ENST00000455445.6:c.1456_1459delCACA	ENST00000455445.6:p.His486PhefsTer?
	ENST00000456676.7:c.1972_1975delCACA	ENST00000456676.7:p.His658PhefsTer55
	ENST00000458205.6:c.1456_1459delCACA	ENST00000458205.6:p.His486PhefsTer55
	ENST00000466900.6:c.1456_1459delCACA	ENST00000466900.6:p.His486PhefsTer55
	ENST00000485889.2:c.1456_1459delCACA	ENST00000485889.2:p.His486PhefsTer55
	ENST00000492474.6:c.1456_1459delCACA	ENST00000492474.6:p.His486PhefsTer55
	ENST00000536378.5:c.1456_1459delCACA	ENST00000536378.5:p.His486PhefsTer55
	ENST00000539477.6:c.1456_1459delCACA	ENST00000539477.6:p.His486PhefsTer55
	ENST00000616768.6:c.2086_2089delCACA	ENST00000616768.6:p.His696PhefsTer55
	ENST00000673673.2:c.2014_2017delCACA	ENST00000673673.2:p.His672PhefsTer55
	ENST00000673899.1:c.1447_1450delCACA	ENST00000673899.1:p.His483PhefsTer55
	ENST00000673990.2:c.1156_1159delCACA	ENST00000673990.2:p.His386PhefsTer55
	ENST00000674019.1:c.1456_1459delCACA	ENST00000674019.1:p.His486PhefsTer55
	ENST00000713802.1:c.2080_2083delCACA	ENST00000713802.1:p.His694PhefsTer55

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

MLH1

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

Descrption	Source	Links
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: -

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