chr3:37050530:GGAACACATTGTCTATAAAGC>NNNNN 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	chr3:37,092,021-37,092,041 View the variant detail on this assembly version.
hg38	chr3:37,050,530-37,050,550

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.2148_2168delinsNNNNN	NP_000240.1:p.Val716?fsTer62
	NM_001167617.1:c.1854_1874delinsNNNNN	NP_001161089.1:p.Val618?fsTer62
	NM_001167618.1:c.1425_1445delinsNNNNN	NP_001161090.1:p.Val475?fsTer?
	NM_001258271.1:c.1941_1961delinsNNNNN	NP_001245200.1:p.Val647?fsTer62
	NM_001258274.1:c.1425_1445delinsNNNNN	NP_001245203.1:p.Val475?fsTer62
	NM_001258273.1:c.1425_1445delinsNNNNN	NP_001245202.1:p.Val475?fsTer62
	NM_001167619.1:c.1425_1445delinsNNNNN	NP_001161091.1:p.Val475?fsTer62
Ensemble	ENST00000231790.8:c.2148_2168delinsNNNNN	ENST00000231790.8:p.Val716?fsTer62
	ENST00000435176.5:c.1854_1874delinsNNNNN	ENST00000435176.5:p.Val618?fsTer62
	ENST00000450420.6:c.40_47+13delinsNNNNN
	ENST00000455445.6:c.1425_1445delinsNNNNN	ENST00000455445.6:p.Val475?fsTer?
	ENST00000456676.7:c.1941_1961delinsNNNNN	ENST00000456676.7:p.Val647?fsTer62
	ENST00000458205.6:c.1425_1445delinsNNNNN	ENST00000458205.6:p.Val475?fsTer62
	ENST00000466900.6:c.1425_1445delinsNNNNN	ENST00000466900.6:p.Val475?fsTer62
	ENST00000485889.2:c.1425_1445delinsNNNNN	ENST00000485889.2:p.Val475?fsTer62
	ENST00000492474.6:c.1425_1445delinsNNNNN	ENST00000492474.6:p.Val475?fsTer62
	ENST00000536378.5:c.1425_1445delinsNNNNN	ENST00000536378.5:p.Val475?fsTer62
	ENST00000539477.6:c.1425_1445delinsNNNNN	ENST00000539477.6:p.Val475?fsTer62
	ENST00000616768.6:c.2055_2075delinsNNNNN	ENST00000616768.6:p.Val685?fsTer62
	ENST00000673673.2:c.1983_2003delinsNNNNN	ENST00000673673.2:p.Val661?fsTer62
	ENST00000673899.1:c.1416_1436delinsNNNNN	ENST00000673899.1:p.Val472?fsTer62
	ENST00000673990.2:c.1125_1145delinsNNNNN	ENST00000673990.2:p.Val375?fsTer62
	ENST00000674019.1:c.1425_1445delinsNNNNN	ENST00000674019.1:p.Val475?fsTer62
	ENST00000713802.1:c.2049_2069delinsNNNNN	ENST00000713802.1:p.Val683?fsTer62

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: rs786202275 dbSNP
Genome: hg38
Position: chr3:37,050,530-37,050,550
Variant Type: snv
Reference Allele: GGAACACATTGTCTATAAAGC
Alternative Allele: NNNNN

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