chr3:37025978:GA> 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	chr3:37,067,469-37,067,470
hg38	chr3:37,025,978-37,025,979

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.1380_1381delGA	NP_000240.1:p.Lys461GlufsTer17
	NM_001167617.1:c.1086_1087delGA	NP_001161089.1:p.Lys363GlufsTer17
	NM_001167618.1:c.657_658delGA	NP_001161090.1:p.Lys220GlufsTer17
	NM_001258271.1:c.1380_1381delGA	NP_001245200.1:p.Lys461GlufsTer17
	NM_001258274.1:c.657_658delGA	NP_001245203.1:p.Lys220GlufsTer17
	NM_001258273.1:c.657_658delGA	NP_001245202.1:p.Lys220GlufsTer17
	NM_001167619.1:c.657_658delGA	NP_001161091.1:p.Lys220GlufsTer17
Ensemble	ENST00000231790.8:c.1380_1381delGA	ENST00000231790.8:p.Lys461GlufsTer17
	ENST00000435176.5:c.1086_1087delGA	ENST00000435176.5:p.Lys363GlufsTer17
	ENST00000441265.6:c.657_658delGA	ENST00000441265.6:p.Lys220GlufsTer17
	ENST00000450420.6:c.1380_1381delGA	ENST00000450420.6:p.Lys461GlufsTer17
	ENST00000455445.6:c.657_658delGA	ENST00000455445.6:p.Lys220GlufsTer17
	ENST00000456676.7:c.1380_1381delGA	ENST00000456676.7:p.Lys461GlufsTer17
	ENST00000458205.6:c.657_658delGA	ENST00000458205.6:p.Lys220GlufsTer17
	ENST00000466900.6:c.657_658delGA	ENST00000466900.6:p.Lys220GlufsTer17
	ENST00000485889.2:c.657_658delGA	ENST00000485889.2:p.Lys220GlufsTer17
	ENST00000492474.6:c.657_658delGA	ENST00000492474.6:p.Lys220GlufsTer17
	ENST00000536378.5:c.657_658delGA	ENST00000536378.5:p.Lys220GlufsTer17
	ENST00000539477.6:c.657_658delGA	ENST00000539477.6:p.Lys220GlufsTer17
	ENST00000616768.6:c.1380_1381delGA	ENST00000616768.6:p.Lys461GlufsTer17
	ENST00000673673.2:c.1380_1381delGA	ENST00000673673.2:p.Lys461GlufsTer17
	ENST00000673715.1:c.1380_1381delGA	ENST00000673715.1:p.Lys461GlufsTer17
	ENST00000673899.1:c.678-2806_678-2805delGA
	ENST00000673990.2:c.357_358delGA	ENST00000673990.2:p.Lys120GlufsTer17
	ENST00000674019.1:c.657_658delGA	ENST00000674019.1:p.Lys220GlufsTer17
	ENST00000713802.1:c.1281_1282delGA	ENST00000713802.1:p.Lys428GlufsTer17

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
0.329	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs587778909 dbSNP
Genome: hg38
Position: chr3:37,025,978-37,025,979
Variant Type: snv
Reference Allele: GA
Alternative Allele: -

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