chr3:36993651:TG>AC 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	chr3:37,035,142-37,035,143 View the variant detail on this assembly version.
hg38	chr3:36,993,651-36,993,652

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.104_105delinsAC	NP_000240.1:p.Met35Asn
	NM_001258271.1:c.104_105delinsAC	NP_001245200.1:p.Met35Asn
	NM_001258273.1:c.-529_-528delinsAC
Ensemble	ENST00000231790.8:c.104_105delinsAC	ENST00000231790.8:p.Met35Asn
	ENST00000450420.6:c.104_105delinsAC	ENST00000450420.6:p.Met35Asn
	ENST00000456676.7:c.104_105delinsAC	ENST00000456676.7:p.Met35Asn
	ENST00000536378.5:c.-529_-528delinsAC
	ENST00000616768.6:c.104_105delinsAC	ENST00000616768.6:p.Met35Asn
	ENST00000673673.2:c.104_105delinsAC	ENST00000673673.2:p.Met35Asn
	ENST00000673715.1:c.104_105delinsAC	ENST00000673715.1:p.Met35Asn
	ENST00000673899.1:c.104_105delinsAC	ENST00000673899.1:p.Met35Asn
	ENST00000713802.1:c.104_105delinsAC	ENST00000713802.1:p.Met35Asn

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	2007-06-01	no assertion criteria provided	Mismatch repair cancer syndrome 1	germline	Detail
Pathogenic	2007-06-01	no assertion criteria provided	Colorectal cancer, hereditary nonpolyposis, type 2	germline	Detail
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.492	Turcot syndrome (disorder)	NA	CLINVAR		Detail
0.440	Hereditary Non-Polyposis Colon Cancer Type 2	NA	CLINVAR		Detail
0.329	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) AND Mismatch repair cancer syndrome 1	ClinVar	Detail
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) AND Colorectal cancer, hereditary nonpolyposis, typ...	ClinVar	Detail
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) AND Lynch syndrome	ClinVar	Detail
NA	DisGeNET	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: rs121912965 dbSNP
Genome: hg38
Position: chr3:36,993,651-36,993,652
Variant Type: snv
Reference Allele: TG
Alternative Allele: AC

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