chr3:37025855:TTCTAGTGGCAGGGCTA> 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	chr3:37,067,346-37,067,362
hg38	chr3:37,025,855-37,025,871

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1257_1273delTTCTAGTGGCAGGGCTA	NP_000240.1:p.Ile419MetfsTer5
	NM_001167617.1:c.963_979delTTCTAGTGGCAGGGCTA	NP_001161089.1:p.Ile321MetfsTer5
	NM_001167618.1:c.534_550delTTCTAGTGGCAGGGCTA	NP_001161090.1:p.Ile178MetfsTer5
	NM_001258271.1:c.1257_1273delTTCTAGTGGCAGGGCTA	NP_001245200.1:p.Ile419MetfsTer5
	NM_001258274.1:c.534_550delTTCTAGTGGCAGGGCTA	NP_001245203.1:p.Ile178MetfsTer5
	NM_001258273.1:c.534_550delTTCTAGTGGCAGGGCTA	NP_001245202.1:p.Ile178MetfsTer5
	NM_001167619.1:c.534_550delTTCTAGTGGCAGGGCTA	NP_001161091.1:p.Ile178MetfsTer5
Ensemble	ENST00000231790.8:c.1257_1273delTTCTAGTGGCAGGGCTA	ENST00000231790.8:p.Ile419MetfsTer5
	ENST00000435176.5:c.963_979delTTCTAGTGGCAGGGCTA	ENST00000435176.5:p.Ile321MetfsTer5
	ENST00000441265.6:c.534_550delTTCTAGTGGCAGGGCTA	ENST00000441265.6:p.Ile178MetfsTer5
	ENST00000450420.6:c.1257_1273delTTCTAGTGGCAGGGCTA	ENST00000450420.6:p.Ile419MetfsTer5
	ENST00000455445.6:c.534_550delTTCTAGTGGCAGGGCTA	ENST00000455445.6:p.Ile178MetfsTer5
	ENST00000456676.7:c.1257_1273delTTCTAGTGGCAGGGCTA	ENST00000456676.7:p.Ile419MetfsTer5
	ENST00000458205.6:c.534_550delTTCTAGTGGCAGGGCTA	ENST00000458205.6:p.Ile178MetfsTer5
	ENST00000466900.6:c.534_550delTTCTAGTGGCAGGGCTA	ENST00000466900.6:p.Ile178MetfsTer5
	ENST00000485889.2:c.534_550delTTCTAGTGGCAGGGCTA	ENST00000485889.2:p.Ile178MetfsTer5
	ENST00000492474.6:c.534_550delTTCTAGTGGCAGGGCTA	ENST00000492474.6:p.Ile178MetfsTer5
	ENST00000536378.5:c.534_550delTTCTAGTGGCAGGGCTA	ENST00000536378.5:p.Ile178MetfsTer5
	ENST00000539477.6:c.534_550delTTCTAGTGGCAGGGCTA	ENST00000539477.6:p.Ile178MetfsTer5
	ENST00000616768.6:c.1257_1273delTTCTAGTGGCAGGGCTA	ENST00000616768.6:p.Ile419MetfsTer5
	ENST00000673673.2:c.1257_1273delTTCTAGTGGCAGGGCTA	ENST00000673673.2:p.Ile419MetfsTer5
	ENST00000673715.1:c.1257_1273delTTCTAGTGGCAGGGCTA	ENST00000673715.1:p.Ile419MetfsTer5
	ENST00000673899.1:c.678-2929_678-2913delTTCTAGTGGCAGGGCTA
	ENST00000673990.2:c.234_250delTTCTAGTGGCAGGGCTA	ENST00000673990.2:p.Ile78MetfsTer5
	ENST00000674019.1:c.534_550delTTCTAGTGGCAGGGCTA	ENST00000674019.1:p.Ile178MetfsTer5
	ENST00000713802.1:c.1158_1174delTTCTAGTGGCAGGGCTA	ENST00000713802.1:p.Ile386MetfsTer5

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	2014-12-30	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.1257_1273del (p.Ile419fs) 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: rs786203893 dbSNP
Genome: hg38
Position: chr3:37,025,855-37,025,871
Variant Type: snv
Reference Allele: TTCTAGTGGCAGGGCTA
Alternative Allele: -

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