chr10:43120119:AGC>TTT Detail (hg38) (RET)

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

Genome

Assembly	Position
hg19	chr10:43,615,567-43,615,569 View the variant detail on this assembly version.
hg38	chr10:43,120,119-43,120,121

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.2646_2648delinsTTT	NP_065681.1:p.Ala883Phe
	NM_020975.4:c.2646_2648delinsTTT	NP_066124.1:p.Ala883Phe
Ensemble	ENST00000340058.6:c.2646_2648delinsTTT	ENST00000340058.6:p.Ala883Phe
	ENST00000355710.8:c.2646_2648delinsTTT	ENST00000355710.8:p.Ala883Phe
	ENST00000615310.5:c.2250_2252delinsTTT	ENST00000615310.5:p.Ala751Phe
	ENST00000713926.1:c.2382_2384delinsTTT	ENST00000713926.1:p.Ala795Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

RET

Type	Database	ID	Link
Gene	MIM	164761	OMIM
	HGNC	9967	HGNC
	Ensembl	ENSG00000165731	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM981	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Medullary carcinoma of thyroid	Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation di...	BeFree	21186952	Detail
0.614	multiple endocrine neoplasia type 2A	Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of R...	BeFree	10679286	Detail
0.592	multiple endocrine neoplasia type 2B	Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation di...	BeFree	21186952	Detail

Annotation

Annotations

Descrption	Source	Links
Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indole...	DisGeNET	Detail
Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y8...	DisGeNET	Detail
Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indole...	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: rs121913306 dbSNP
Genome: hg38
Position: chr10:43,120,119-43,120,121
Variant Type: snv
Reference Allele: AGC
Alternative Allele: TTT

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