chr7:116423383:G>A Detail (hg19) (MET)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:116,423,383-116,423,383
hg38	chr7:116,783,329-116,783,329 View the variant detail on this assembly version.

HGVS

MET

Type	Transcript	Protein
RefSeq	NM_001127500.2:c.3712G>A	NP_001120972.1:p.Val1238Ile
	NM_000245.3:c.3658G>A	NP_000236.2:p.Val1220Ile
	NM_001324402.1:c.3658G>A	NP_001311331.1:p.Val1220Ile
Ensemble	ENST00000318493.11:c.3712G>A	ENST00000318493.11:p.Val1238Ile
	ENST00000397752.8:c.3658G>A	ENST00000397752.8:p.Val1220Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

MET

Type	Database	ID	Link
Gene	MIM	164860	OMIM
	HGNC	7029	HGNC
	Ensembl	ENSG00000105976	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1673476	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-05-01	no assertion criteria provided	Papillary renal cell carcinoma type 1	germline	Detail
Pathogenic	2021-05-03	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2023-07-18	criteria provided, single submitter	renal cell carcinoma	germline	Detail
Pathogenic		no assertion criteria provided	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.253	renal cell carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) AND Renal cell carcinoma	ClinVar	Detail
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) AND not provided	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: rs121913670 dbSNP
Genome: hg19
Position: chr7:116,423,383-116,423,383
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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