chr10:43120184: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	chr10:43,615,632-43,615,632 View the variant detail on this assembly version.
hg38	chr10:43,120,184-43,120,184

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.2711C>G	NP_065681.1:p.Ser904Cys
	NM_020975.4:c.2711C>G	NP_066124.1:p.Ser904Cys
Ensemble	ENST00000340058.6:c.2711C>G	ENST00000340058.6:p.Ser904Cys
	ENST00000355710.8:c.2711C>G	ENST00000355710.8:p.Ser904Cys
	ENST00000615310.5:c.2315C>G	ENST00000615310.5:p.Ser772Cys
	ENST00000713926.1:c.2447C>G	ENST00000713926.1:p.Ser816Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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	2002-01-01	no assertion criteria provided	multiple endocrine neoplasia type 2B	germline	Detail
Uncertain significance	2021-11-02	criteria provided, single submitter	Multiple endocrine neoplasia, type 2	germline	Detail
Uncertain significance	2022-11-25	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.592	multiple endocrine neoplasia type 2B	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.4(RET):c.[2410G>A;2711C>G] AND Multiple endocrine neoplasia type 2B	ClinVar	Detail
NM_020975.6(RET):c.2711C>G (p.Ser904Cys) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.2711C>G (p.Ser904Cys) AND not specified	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: rs267607011 dbSNP
Genome: hg38
Position: chr10:43,120,184-43,120,184
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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