chr3:37000992:CTA> 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	chr3:37,042,483-37,042,485
hg38	chr3:37,000,992-37,000,994

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.245_247delCTA	NP_000240.1:p.Thr82del
	NM_001167617.1:c.-45_-43delCTA
	NM_001167618.1:c.-479_-477delCTA
	NM_001258271.1:c.245_247delCTA	NP_001245200.1:p.Thr82del
	NM_001258274.1:c.-479_-477delCTA
	NM_001258273.1:c.-479_-477delCTA
	NM_001167619.1:c.-387_-385delCTA
Ensemble	ENST00000231790.8:c.245_247delCTA	ENST00000231790.8:p.Thr82del
	ENST00000435176.5:c.-45_-43delCTA
	ENST00000441265.6:c.-479_-477delCTA
	ENST00000450420.6:c.245_247delCTA	ENST00000450420.6:p.Thr82del
	ENST00000455445.6:c.-479_-477delCTA
	ENST00000456676.7:c.245_247delCTA	ENST00000456676.7:p.Thr82del
	ENST00000458205.6:c.-479_-477delCTA
	ENST00000466900.6:c.-585_-583delCTA
	ENST00000485889.2:c.-479_-477delCTA
	ENST00000492474.6:c.-479_-477delCTA
	ENST00000536378.5:c.-479_-477delCTA
	ENST00000539477.6:c.-387_-385delCTA
	ENST00000616768.6:c.245_247delCTA	ENST00000616768.6:p.Thr82del
	ENST00000673673.2:c.245_247delCTA	ENST00000673673.2:p.Thr82del
	ENST00000673715.1:c.245_247delCTA	ENST00000673715.1:p.Thr82del
	ENST00000673899.1:c.245_247delCTA	ENST00000673899.1:p.Thr82del
	ENST00000673990.2:c.-685_-683delCTA
	ENST00000674019.1:c.-479_-477delCTA
	ENST00000713802.1:c.208-3409_208-3407delCTA

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs786202328 dbSNP
Genome: hg38
Position: chr3:37,000,992-37,000,994
Variant Type: snv
Reference Allele: CTA
Alternative Allele: -

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