chr10:43610129:G>A Detail (hg19) (RET)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr10:43,610,129-43,610,129
hg38	chr10:43,114,681-43,114,681 View the variant detail on this assembly version.

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.2081G>A	NP_065681.1:p.Arg694Gln
	NM_020975.4:c.2081G>A	NP_066124.1:p.Arg694Gln
Ensemble	ENST00000340058.6:c.2081G>A	ENST00000340058.6:p.Arg694Gln
	ENST00000713926.1:c.1817G>A	ENST00000713926.1:p.Arg606Gln
	ENST00000355710.8:c.2081G>A	ENST00000355710.8:p.Arg694Gln
	ENST00000615310.5:c.1685G>A	ENST00000615310.5:p.Arg562Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Uncertain significance	2014-06-01	no assertion criteria provided	Aganglionic megacolon	germline	Detail
Conflicting interpretations of pathogenicity	2023-04-18	criteria provided, conflicting interpretations	multiple endocrine neoplasia type 2A	unknown	Detail
Uncertain significance	2015-12-29	criteria provided, single submitter	multiple endocrine neoplasia type 2B	unknown	Detail
Uncertain significance	2016-04-25	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2024-01-23	criteria provided, multiple submitters, no conflicts	Multiple endocrine neoplasia, type 2	germline	Detail
Likely benign	2019-02-27	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-08-04	criteria provided, single submitter	not provided	germline	Detail
Benign	2018-01-13	criteria provided, single submitter	pheochromocytoma	germline	Detail
Uncertain significance	2018-01-13	criteria provided, single submitter	Hirschsprung disease, susceptibility to, 1	germline	Detail
Uncertain significance	2018-01-13	criteria provided, single submitter	Renal hypodysplasia/aplasia 1	germline	Detail
Likely benign	2018-01-13	criteria provided, single submitter	multiple endocrine neoplasia	germline	Detail
Likely benign	2023-11-08	criteria provided, single submitter	RET-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.200	Hirschsprung disease, susceptibility to, 1	RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patie...	UNIPROT	22174939	Detail
0.002	thyroiditis	We report a new RET point mutation [R694Q (CGG-->CAG)], serendipitously found...	BeFree	15472167	Detail
<0.001	hypothyroidism	We report a new RET point mutation [R694Q (CGG-->CAG)], serendipitously found...	BeFree	15472167	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Aganglionic megacolon	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Multiple endocrine neoplasia type 2A	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Multiple endocrine neoplasia type 2B	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND not specified	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND not provided	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Pheochromocytoma	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Hirschsprung disease, susceptibility to, 1	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Renal hypodysplasia/aplasia 1	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Multiple endocrine neoplasia	ClinVar	Detail
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND RET-related disorder	ClinVar	Detail
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.	DisGeNET	Detail
We report a new RET point mutation [R694Q (CGG-->CAG)], serendipitously found in a 23-yr-old woma...	DisGeNET	Detail
We report a new RET point mutation [R694Q (CGG-->CAG)], serendipitously found in a 23-yr-old woma...	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: rs141185224 dbSNP
Genome: hg19
Position: chr10:43,610,129-43,610,129
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8600
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119610
Allele Counts in All Race (ExAC): 22
Heterozygous Counts in All Race (ExAC): 22
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.8393110943901013E-4

Genome browser