chr10:43113629:C>G 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	chr10:43,609,077-43,609,077 View the variant detail on this assembly version.
hg38	chr10:43,113,629-43,113,629

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.1833C>G	NP_065681.1:p.Cys611Trp
	NM_020975.4:c.1833C>G	NP_066124.1:p.Cys611Trp
Ensemble	ENST00000340058.6:c.1833C>G	ENST00000340058.6:p.Cys611Trp
	ENST00000355710.8:c.1833C>G	ENST00000355710.8:p.Cys611Trp
	ENST00000615310.5:c.1437C>G	ENST00000615310.5:p.Cys479Trp
	ENST00000713926.1:c.1704C>G	ENST00000713926.1:p.Cys568Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1994-01-01	no assertion criteria provided	multiple endocrine neoplasia type 2A	germline	Detail
Pathogenic	2021-12-11	criteria provided, single submitter	Multiple endocrine neoplasia, type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.614	multiple endocrine neoplasia type 2A	NA	CLINVAR		Detail
0.522	familial medullary thyroid carcinoma	Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.	UNIPROT	8103403	Detail
0.614	multiple endocrine neoplasia type 2A	Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.	UNIPROT	8103403	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) AND Multiple endocrine neoplasia type 2A	ClinVar	Detail
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NA	DisGeNET	Detail
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.	DisGeNET	Detail
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.	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: rs80069458 dbSNP
Genome: hg38
Position: chr10:43,113,629-43,113,629
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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