chr10:43113656: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	chr10:43,609,104-43,609,104 View the variant detail on this assembly version.
hg38	chr10:43,113,656-43,113,656

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.1860C>G	NP_065681.1:p.Cys620Trp
	NM_020975.4:c.1860C>G	NP_066124.1:p.Cys620Trp
Ensemble	ENST00000340058.6:c.1860C>G	ENST00000340058.6:p.Cys620Trp
	ENST00000355710.8:c.1860C>G	ENST00000355710.8:p.Cys620Trp
	ENST00000615310.5:c.1464C>G	ENST00000615310.5:p.Cys488Trp
	ENST00000713926.1:c.1731C>G	ENST00000713926.1:p.Cys577Trp

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	2017-02-28	no assertion criteria provided	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE	germline	Detail
Pathogenic	2020-05-12	criteria provided, single submitter	Multiple endocrine neoplasia, type 2	germline	Detail
Pathogenic	2022-06-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-01-27	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.522	familial medullary thyroid carcinoma	The predisposing RET mutation in all seven families had been previously reported...	BeFree	9384613	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.1860C>G (p.Cys620Trp) AND MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRU...	ClinVar	Detail
NM_020975.6(RET):c.1860C>G (p.Cys620Trp) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.1860C>G (p.Cys620Trp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_020975.6(RET):c.1860C>G (p.Cys620Trp) AND not provided	ClinVar	Detail
The predisposing RET mutation in all seven families had been previously reported in MEN 2A or FMTC a...	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: rs79890926 dbSNP
Genome: hg38
Position: chr10:43,113,656-43,113,656
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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