chr3:37025859:A> Detail (hg38) (MLH1)

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

Information

Genome

Assembly	Position
hg19	chr3:37,067,350-37,067,350
hg38	chr3:37,025,859-37,025,859

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1261delA	NP_000240.1:p.Ser421ValfsTer70
	NM_001167617.1:c.967delA	NP_001161089.1:p.Ser323ValfsTer70
	NM_001167618.1:c.538delA	NP_001161090.1:p.Ser180ValfsTer70
	NM_001258271.1:c.1261delA	NP_001245200.1:p.Ser421ValfsTer70
	NM_001258274.1:c.538delA	NP_001245203.1:p.Ser180ValfsTer70
	NM_001258273.1:c.538delA	NP_001245202.1:p.Ser180ValfsTer70
	NM_001167619.1:c.538delA	NP_001161091.1:p.Ser180ValfsTer70
Ensemble	ENST00000231790.8:c.1261delA	ENST00000231790.8:p.Ser421ValfsTer70
	ENST00000435176.5:c.967delA	ENST00000435176.5:p.Ser323ValfsTer70
	ENST00000441265.6:c.538delA	ENST00000441265.6:p.Ser180ValfsTer70
	ENST00000450420.6:c.1261delA	ENST00000450420.6:p.Ser421ValfsTer70
	ENST00000455445.6:c.538delA	ENST00000455445.6:p.Ser180ValfsTer70
	ENST00000456676.7:c.1261delA	ENST00000456676.7:p.Ser421ValfsTer70
	ENST00000458205.6:c.538delA	ENST00000458205.6:p.Ser180ValfsTer70
	ENST00000466900.6:c.538delA	ENST00000466900.6:p.Ser180ValfsTer70
	ENST00000485889.2:c.538delA	ENST00000485889.2:p.Ser180ValfsTer70
	ENST00000492474.6:c.538delA	ENST00000492474.6:p.Ser180ValfsTer70
	ENST00000536378.5:c.538delA	ENST00000536378.5:p.Ser180ValfsTer70
	ENST00000539477.6:c.538delA	ENST00000539477.6:p.Ser180ValfsTer70
	ENST00000616768.6:c.1261delA	ENST00000616768.6:p.Ser421ValfsTer70
	ENST00000673673.2:c.1261delA	ENST00000673673.2:p.Ser421ValfsTer70
	ENST00000673715.1:c.1261delA	ENST00000673715.1:p.Ser421ValfsTer70
	ENST00000673899.1:c.678-2925delA
	ENST00000673990.2:c.238delA	ENST00000673990.2:p.Ser80ValfsTer70
	ENST00000674019.1:c.538delA	ENST00000674019.1:p.Ser180ValfsTer70
	ENST00000713802.1:c.1162delA	ENST00000713802.1:p.Ser388ValfsTer70

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.329	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.1261del (p.Ser421fs) AND Lynch 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: rs63750293 dbSNP
Genome: hg38
Position: chr3:37,025,859-37,025,859
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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