chr10:43597990:C>T 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	chr10:43,597,990-43,597,990
hg38	chr10:43,102,542-43,102,542 View the variant detail on this assembly version.

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.538C>T	NP_065681.1:p.Arg180Ter
	NM_020975.4:c.538C>T	NP_066124.1:p.Arg180Ter
Ensemble	ENST00000638465.2:c.*137C>T
	ENST00000340058.6:c.538C>T	ENST00000340058.6:p.Arg180Ter
	ENST00000683278.2:c.*137C>T
	ENST00000640619.2:c.409C>T	ENST00000640619.2:p.Arg137Ter
	ENST00000713926.1:c.409C>T	ENST00000713926.1:p.Arg137Ter
	ENST00000355710.8:c.538C>T	ENST00000355710.8:p.Arg180Ter
	ENST00000684216.2:c.538C>T	ENST00000684216.2:p.Arg180Ter
	ENST00000615310.5:c.538C>T	ENST00000615310.5:p.Arg180Ter

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
risk factor	1994-01-27	no assertion criteria provided	Hirschsprung disease, susceptibility to, 1	germline	Detail
Pathogenic	2019-06-19	criteria provided, single submitter	Multiple endocrine neoplasia, type 2	germline	Detail
Pathogenic	2024-01-02	criteria provided, single submitter	RET-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.156	Hirschsprung disease 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.538C>T (p.Arg180Ter) AND Hirschsprung disease, susceptibility to, 1	ClinVar	Detail
NM_020975.6(RET):c.538C>T (p.Arg180Ter) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.538C>T (p.Arg180Ter) AND RET-related disorder	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: rs76449634 dbSNP
Genome: hg19
Position: chr10:43,597,990-43,597,990
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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