chr10:43114497:C>G Detail (hg38) (RET)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr10:43,609,945-43,609,945 View the variant detail on this assembly version.
hg38	chr10:43,114,497-43,114,497

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.1897C>G	NP_065681.1:p.Leu633Val
	NM_020975.4:c.1897C>G	NP_066124.1:p.Leu633Val
Ensemble	ENST00000340058.6:c.1897C>G	ENST00000340058.6:p.Leu633Val
	ENST00000355710.8:c.1897C>G	ENST00000355710.8:p.Leu633Val
	ENST00000615310.5:c.1501C>G	ENST00000615310.5:p.Leu501Val
	ENST00000713926.1:c.1751-118C>G

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	1994-01-01	no assertion criteria provided	multiple endocrine neoplasia type 2A	germline	Detail
Uncertain significance	2023-12-20	criteria provided, single submitter	Multiple endocrine neoplasia, type 2	germline	Detail
Uncertain significance	2016-09-13	criteria provided, single submitter	multiple endocrine neoplasia type 2B	unknown	Detail
Uncertain significance	2023-04-18	criteria provided, multiple submitters, no conflicts	multiple endocrine neoplasia type 2A	unknown	Detail
Uncertain significance	2021-08-18	criteria provided, single submitter	not provided	unknown	Detail
Uncertain significance	2022-04-14	criteria provided, single submitter	familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-04-14	criteria provided, single submitter	familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-04-14	criteria provided, single submitter	familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-04-14	criteria provided, single submitter	familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-04-14	criteria provided, single submitter	familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-11-18	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	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C] AND Multiple endocrine neoplasia type 2A	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND Multiple endocrine neoplasia type 2B	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND Multiple endocrine neoplasia type 2A	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND not provided	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND Hereditary cancer-predisposing syndrome	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: rs267607010 dbSNP
Genome: hg38
Position: chr10:43,114,497-43,114,497
Variant Type: snv
Reference Allele: C
Alternative Allele: G

Genome browser