chr3:36996657:AA> 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	chr3:37,038,148-37,038,149
hg38	chr3:36,996,657-36,996,658

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.155_156delAA	NP_000240.1:p.Lys52ArgfsTer26
	NM_001167617.1:c.-135_-134delAA
	NM_001167618.1:c.-569_-568delAA
	NM_001258271.1:c.155_156delAA	NP_001245200.1:p.Lys52ArgfsTer26
	NM_001258274.1:c.-714_-713delAA
	NM_001258273.1:c.-517+2994_-517+2995delAA
	NM_001167619.1:c.-477_-476delAA
Ensemble	ENST00000231790.8:c.155_156delAA	ENST00000231790.8:p.Lys52ArgfsTer26
	ENST00000435176.5:c.-135_-134delAA
	ENST00000441265.6:c.-569_-568delAA
	ENST00000450420.6:c.155_156delAA	ENST00000450420.6:p.Lys52ArgfsTer26
	ENST00000455445.6:c.-569_-568delAA
	ENST00000456676.7:c.155_156delAA	ENST00000456676.7:p.Lys52ArgfsTer26
	ENST00000458205.6:c.-714_-713delAA
	ENST00000466900.6:c.-675_-674delAA
	ENST00000485889.2:c.-569_-568delAA
	ENST00000492474.6:c.-569_-568delAA
	ENST00000536378.5:c.-517+2994_-517+2995delAA
	ENST00000539477.6:c.-477_-476delAA
	ENST00000616768.6:c.155_156delAA	ENST00000616768.6:p.Lys52ArgfsTer26
	ENST00000673673.2:c.155_156delAA	ENST00000673673.2:p.Lys52ArgfsTer26
	ENST00000673715.1:c.155_156delAA	ENST00000673715.1:p.Lys52ArgfsTer26
	ENST00000673899.1:c.155_156delAA	ENST00000673899.1:p.Lys52ArgfsTer26
	ENST00000673990.2:c.-775_-774delAA
	ENST00000674019.1:c.-569_-568delAA
	ENST00000713802.1:c.155_156delAA	ENST00000713802.1:p.Lys52ArgfsTer36

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	2014-08-05	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-07-11	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

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.155_156del (p.Lys52fs) AND not provided	ClinVar	Detail
NM_000249.4(MLH1):c.155_156del (p.Lys52fs) AND Colorectal cancer, hereditary nonpolyposis, type 2	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: rs63750028 dbSNP
Genome: hg38
Position: chr3:36,996,657-36,996,658
Variant Type: snv
Reference Allele: AA
Alternative Allele: -

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