chr3:37020409:GCACATCGAGAGCA> Detail (hg38) (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	chr3:37,061,900-37,061,913
hg38	chr3:37,020,409-37,020,422

HGVS

MLH1

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
	NM_001258271.1:c.984_997delGCACATCGAGAGCA	NP_001245200.1:p.His329AlafsTer28
	NM_001258274.1:c.261_274delGCACATCGAGAGCA	NP_001245203.1:p.His88AlafsTer28
	NM_001258273.1:c.261_274delGCACATCGAGAGCA	NP_001245202.1:p.His88AlafsTer28
	NM_001167619.1:c.261_274delGCACATCGAGAGCA	NP_001161091.1:p.His88AlafsTer28
Ensemble	ENST00000231790.8:c.984_997delGCACATCGAGAGCA	ENST00000231790.8:p.His329AlafsTer28
	ENST00000435176.5:c.690_703delGCACATCGAGAGCA	ENST00000435176.5:p.His231AlafsTer28
	ENST00000441265.6:c.261_274delGCACATCGAGAGCA	ENST00000441265.6:p.His88AlafsTer28
	ENST00000450420.6:c.984_997delGCACATCGAGAGCA	ENST00000450420.6:p.His329AlafsTer28
	ENST00000455445.6:c.261_274delGCACATCGAGAGCA	ENST00000455445.6:p.His88AlafsTer28
	ENST00000456676.7:c.984_997delGCACATCGAGAGCA	ENST00000456676.7:p.His329AlafsTer28
	ENST00000458205.6:c.261_274delGCACATCGAGAGCA	ENST00000458205.6:p.His88AlafsTer28
	ENST00000466900.6:c.261_274delGCACATCGAGAGCA	ENST00000466900.6:p.His88AlafsTer28
	ENST00000485889.2:c.261_274delGCACATCGAGAGCA	ENST00000485889.2:p.His88AlafsTer28
	ENST00000492474.6:c.261_274delGCACATCGAGAGCA	ENST00000492474.6:p.His88AlafsTer28
	ENST00000536378.5:c.261_274delGCACATCGAGAGCA	ENST00000536378.5:p.His88AlafsTer28
	ENST00000539477.6:c.261_274delGCACATCGAGAGCA	ENST00000539477.6:p.His88AlafsTer28
	ENST00000616768.6:c.984_997delGCACATCGAGAGCA	ENST00000616768.6:p.His329AlafsTer28
	ENST00000673673.2:c.984_997delGCACATCGAGAGCA	ENST00000673673.2:p.His329AlafsTer28
	ENST00000673715.1:c.984_997delGCACATCGAGAGCA	ENST00000673715.1:p.His329AlafsTer28
	ENST00000673899.1:c.677+8310_677+8323delGCACATCGAGAGCA
	ENST00000673990.2:c.-40_-27delGCACATCGAGAGCA
	ENST00000674019.1:c.261_274delGCACATCGAGAGCA	ENST00000674019.1:p.His88AlafsTer28
	ENST00000713802.1:c.885_898delGCACATCGAGAGCA	ENST00000713802.1:p.His296AlafsTer28

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
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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	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

Descrption	Source	Links
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: -

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