chr10:43604594:C>A Detail (hg19) (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	chr10:43,604,594-43,604,594
hg38	chr10:43,109,146-43,109,146 View the variant detail on this assembly version.

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020975.4:c.1179C>A	NP_066124.1:p.Phe393Leu
	NM_020630.4:c.1179C>A	NP_065681.1:p.Phe393Leu
Ensemble	ENST00000355710.8:c.1179C>A	ENST00000355710.8:p.Phe393Leu
	ENST00000615310.5:c.868-2061C>A
	ENST00000340058.6:c.1179C>A	ENST00000340058.6:p.Phe393Leu
	ENST00000713926.1:c.1050C>A	ENST00000713926.1:p.Phe350Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	risk factor
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
risk factor	1994-01-27	no assertion criteria provided	Hirschsprung disease, susceptibility to, 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.156	Hirschsprung disease 1	NA	CLINVAR		Detail
<0.001	multiple endocrine neoplasia type 2B	With the aid of two RET mutants (RET(MEN 2B/S32L) and RET(MEN 2B/F393L)), which ...	BeFree	17599050	Detail
<0.001	multiple endocrine neoplasia type 2B	With the aid of two RET mutants (RET(MEN 2B/S32L) and RET(MEN 2B/F393L)), which ...	BeFree	17599050	Detail
0.200	Hirschsprung disease, susceptibility to, 1	Mutations of the RET proto-oncogene in Hirschsprung's disease.	UNIPROT	8114939	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.1179C>A (p.Phe393Leu) AND Hirschsprung disease, susceptibility to, 1	ClinVar	Detail
NA	DisGeNET	Detail
With the aid of two RET mutants (RET(MEN 2B/S32L) and RET(MEN 2B/F393L)), which accumulate in the ER...	DisGeNET	Detail
With the aid of two RET mutants (RET(MEN 2B/S32L) and RET(MEN 2B/F393L)), which accumulate in the ER...	DisGeNET	Detail
Mutations of the RET proto-oncogene in Hirschsprung's disease.	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: rs78098482 dbSNP
Genome: hg19
Position: chr10:43,604,594-43,604,594
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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