chr10:43126651:C>A 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	chr10:43,622,099-43,622,099 View the variant detail on this assembly version.
hg38	chr10:43,126,651-43,126,651

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.3116C>A	NP_065681.1:p.Pro1039Gln
	NM_020975.4:c.3116C>A	NP_066124.1:p.Pro1039Gln
Ensemble	ENST00000340058.6:c.3116C>A	ENST00000340058.6:p.Pro1039Gln
	ENST00000355710.8:c.3116C>A	ENST00000355710.8:p.Pro1039Gln
	ENST00000615310.5:c.2720C>A	ENST00000615310.5:p.Pro907Gln
	ENST00000713926.1:c.2852C>A	ENST00000713926.1:p.Pro951Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
not provided	2013-09-19	no assertion provided	not specified	germline	Detail
Uncertain significance	2021-01-15	criteria provided, single submitter	Multiple endocrine neoplasia, type 2	germline	Detail
Uncertain significance	2021-06-23	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.614	multiple endocrine neoplasia type 2A	In contrast, three mutations mapping into the intracytoplasmic domain neither mo...	BeFree	9502784	Detail
0.529	Hirschsprung Disease	NA	CLINVAR		Detail
0.241	Congenital central hypoventilation	Mutations of the RET-GDNF signaling pathway in Ondine's curse.	UNIPROT	9497256	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.3116C>A (p.Pro1039Gln) AND not specified	ClinVar	Detail
NM_020975.6(RET):c.3116C>A (p.Pro1039Gln) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.3116C>A (p.Pro1039Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
In contrast, three mutations mapping into the intracytoplasmic domain neither modified the transform...	DisGeNET	Detail
NA	DisGeNET	Detail
Mutations of the RET-GDNF signaling pathway in Ondine's curse.	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: rs79853121 dbSNP
Genome: hg38
Position: chr10:43,126,651-43,126,651
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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