chr3:37067490:C> 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	chr3:37,067,490-37,067,490
hg38	chr3:37,025,999-37,025,999

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1401delC	NP_000240.1:p.Ser467ArgfsTer24
	NM_001167617.1:c.1107delC	NP_001161089.1:p.Ser369ArgfsTer24
	NM_001167618.1:c.678delC	NP_001161090.1:p.Ser226ArgfsTer24
	NM_001258271.1:c.1401delC	NP_001245200.1:p.Ser467ArgfsTer24
	NM_001258274.1:c.678delC	NP_001245203.1:p.Ser226ArgfsTer24
	NM_001258273.1:c.678delC	NP_001245202.1:p.Ser226ArgfsTer24
	NM_001167619.1:c.678delC	NP_001161091.1:p.Ser226ArgfsTer24
Ensemble	ENST00000231790.8:c.1401delC	ENST00000231790.8:p.Ser467ArgfsTer24
	ENST00000435176.5:c.1107delC	ENST00000435176.5:p.Ser369ArgfsTer24
	ENST00000441265.6:c.678delC	ENST00000441265.6:p.Ser226ArgfsTer24
	ENST00000450420.6:c.1401delC	ENST00000450420.6:p.Ser467ArgfsTer24
	ENST00000455445.6:c.678delC	ENST00000455445.6:p.Ser226ArgfsTer24
	ENST00000456676.7:c.1401delC	ENST00000456676.7:p.Ser467ArgfsTer24
	ENST00000458205.6:c.678delC	ENST00000458205.6:p.Ser226ArgfsTer24
	ENST00000466900.6:c.678delC	ENST00000466900.6:p.Ser226ArgfsTer24
	ENST00000485889.2:c.678delC	ENST00000485889.2:p.Ser226ArgfsTer24
	ENST00000492474.6:c.678delC	ENST00000492474.6:p.Ser226ArgfsTer24
	ENST00000536378.5:c.678delC	ENST00000536378.5:p.Ser226ArgfsTer24
	ENST00000539477.6:c.678delC	ENST00000539477.6:p.Ser226ArgfsTer24
	ENST00000616768.6:c.1401delC	ENST00000616768.6:p.Ser467ArgfsTer24
	ENST00000673673.2:c.1401delC	ENST00000673673.2:p.Ser467ArgfsTer24
	ENST00000673715.1:c.1401delC	ENST00000673715.1:p.Ser467ArgfsTer24
	ENST00000673899.1:c.678-2785delC
	ENST00000673990.2:c.378delC	ENST00000673990.2:p.Ser126ArgfsTer24
	ENST00000674019.1:c.678delC	ENST00000674019.1:p.Ser226ArgfsTer24
	ENST00000713802.1:c.1302delC	ENST00000713802.1:p.Ser434ArgfsTer24

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	2022-06-21	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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.1401del (p.Ser467fs) AND Hereditary cancer-predisposing syndrome	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: rs587781892 dbSNP
Genome: hg19
Position: chr3:37,067,490-37,067,490
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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