chr3:37038136:A>C Detail (hg19) (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	chr3:37,038,136-37,038,136
hg38	chr3:36,996,645-36,996,645 View the variant detail on this assembly version.

HGVS

MLH1

Type	Transcript	Protein
RefSeq	NM_000249.3:c.143A>C	NP_000240.1:p.Gln48Pro
	NM_001167617.1:c.-147A>C
	NM_001167618.1:c.-581A>C
	NM_001258271.1:c.143A>C	NP_001245200.1:p.Gln48Pro
	NM_001258274.1:c.-726A>C
	NM_001258273.1:c.-517+2982A>C
	NM_001167619.1:c.-489A>C
Ensemble	ENST00000231790.8:c.143A>C	ENST00000231790.8:p.Gln48Pro
	ENST00000435176.5:c.-147A>C
	ENST00000441265.6:c.-581A>C
	ENST00000450420.6:c.143A>C	ENST00000450420.6:p.Gln48Pro
	ENST00000455445.6:c.-581A>C
	ENST00000456676.7:c.143A>C	ENST00000456676.7:p.Gln48Pro
	ENST00000458205.6:c.-726A>C
	ENST00000466900.6:c.-687A>C
	ENST00000485889.2:c.-581A>C
	ENST00000492474.6:c.-581A>C
	ENST00000536378.5:c.-517+2982A>C
	ENST00000539477.6:c.-489A>C
	ENST00000616768.6:c.143A>C	ENST00000616768.6:p.Gln48Pro
	ENST00000673673.2:c.143A>C	ENST00000673673.2:p.Gln48Pro
	ENST00000673715.1:c.143A>C	ENST00000673715.1:p.Gln48Pro
	ENST00000673899.1:c.143A>C	ENST00000673899.1:p.Gln48Pro
	ENST00000673990.2:c.-787A>C
	ENST00000674019.1:c.-581A>C
	ENST00000713802.1:c.143A>C	ENST00000713802.1:p.Gln48Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2019-06-21	reviewed by expert panel	Lynch syndrome	germline	Detail
Pathogenic	2019-12-19	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Likely pathogenic	2023-07-11	criteria provided, single submitter	Colorectal cancer, hereditary nonpolyposis, type 2	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.329	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro) AND Lynch syndrome	ClinVar	Detail
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro) 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: rs587778914 dbSNP
Genome: hg19
Position: chr3:37,038,136-37,038,136
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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