chr3:37070276:AAGA> Detail (hg19) (MLH1)

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

Information

Genome

Assembly	Position
hg19	chr3:37,070,276-37,070,279
hg38	chr3:37,028,785-37,028,788

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1411_1414delAAGA	NP_000240.1:p.Lys471AspfsTer19
	NM_001167617.1:c.1117_1120delAAGA	NP_001161089.1:p.Lys373AspfsTer19
	NM_001167618.1:c.688_691delAAGA	NP_001161090.1:p.Lys230AspfsTer19
	NM_001258271.1:c.1411_1414delAAGA	NP_001245200.1:p.Lys471AspfsTer19
	NM_001258274.1:c.688_691delAAGA	NP_001245203.1:p.Lys230AspfsTer19
	NM_001258273.1:c.688_691delAAGA	NP_001245202.1:p.Lys230AspfsTer19
	NM_001167619.1:c.688_691delAAGA	NP_001161091.1:p.Lys230AspfsTer19
Ensemble	ENST00000673990.2:c.388_391delAAGA	ENST00000673990.2:p.Lys130AspfsTer19
	ENST00000231790.8:c.1411_1414delAAGA	ENST00000231790.8:p.Lys471AspfsTer19
	ENST00000435176.5:c.1117_1120delAAGA	ENST00000435176.5:p.Lys373AspfsTer19
	ENST00000441265.6:c.688_691delAAGA	ENST00000441265.6:p.Lys230AspfsTer19
	ENST00000450420.6:c.1411_1414delAAGA	ENST00000450420.6:p.Lys471AspfsTer19
	ENST00000455445.6:c.688_691delAAGA	ENST00000455445.6:p.Lys230AspfsTer19
	ENST00000456676.7:c.1411_1414delAAGA	ENST00000456676.7:p.Lys471AspfsTer19
	ENST00000458205.6:c.688_691delAAGA	ENST00000458205.6:p.Lys230AspfsTer19
	ENST00000466900.6:c.688_691delAAGA	ENST00000466900.6:p.Lys230AspfsTer19
	ENST00000485889.2:c.688_691delAAGA	ENST00000485889.2:p.Lys230AspfsTer19
	ENST00000492474.6:c.688_691delAAGA	ENST00000492474.6:p.Lys230AspfsTer19
	ENST00000536378.5:c.688_691delAAGA	ENST00000536378.5:p.Lys230AspfsTer19
	ENST00000539477.6:c.688_691delAAGA	ENST00000539477.6:p.Lys230AspfsTer19
	ENST00000616768.6:c.1411_1414delAAGA	ENST00000616768.6:p.Lys471AspfsTer19
	ENST00000673673.2:c.1411_1414delAAGA	ENST00000673673.2:p.Lys471AspfsTer19
	ENST00000673715.1:c.1411_1414delAAGA	ENST00000673715.1:p.Lys471AspfsTer19
	ENST00000673899.1:c.679_682delAAGA	ENST00000673899.1:p.Lys227AspfsTer19
	ENST00000674019.1:c.688_691delAAGA	ENST00000674019.1:p.Lys230AspfsTer19
	ENST00000713802.1:c.1312_1315delAAGA	ENST00000713802.1:p.Lys438AspfsTer19

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail
Pathogenic	2022-06-15	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-07-08	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-12-13	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic	2020-09-14	criteria provided, single submitter	Hereditary nonpolyposis colon cancer	germline	Detail
Pathogenic	2023-10-03	criteria provided, multiple submitters, no conflicts	Colorectal cancer, hereditary nonpolyposis, type 2	unknown	Detail

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
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) AND Hereditary nonpolyposis colon cancer	ClinVar	Detail
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) AND Colorectal cancer, hereditary nonpolyposis, typ...	ClinVar	Detail
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: rs63751592 dbSNP
Genome: hg19
Position: chr3:37,070,276-37,070,279
Variant Type: snv
Reference Allele: AAGA
Alternative Allele: -

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