chr6:45438040:G>A Detail (hg38) (RUNX2)

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

Genome

Assembly	Position
hg19	chr6:45,405,777-45,405,777 View the variant detail on this assembly version.
hg38	chr6:45,438,040-45,438,040

HGVS

RUNX2

Type	Transcript	Protein
RefSeq	NM_001015051.3:c.674G>A	NP_001015051.3:p.Arg225Gln
	NM_001024630.3:c.674G>A	NP_001019801.3:p.Arg225Gln
	NM_001278478.1:c.632G>A	NP_001265407.1:p.Arg211Gln
Ensemble	ENST00000359524.7:c.632G>A	ENST00000359524.7:p.Arg211Gln
	ENST00000371432.7:c.674G>A	ENST00000371432.7:p.Arg225Gln
	ENST00000371436.10:c.674G>A	ENST00000371436.10:p.Arg225Gln
	ENST00000371438.5:c.674G>A	ENST00000371438.5:p.Arg225Gln
	ENST00000576263.5:c.674G>A	ENST00000576263.5:p.Arg225Gln
	ENST00000625924.1:c.632G>A	ENST00000625924.1:p.Arg211Gln
	ENST00000647337.2:c.674G>A	ENST00000647337.2:p.Arg225Gln

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

RUNX2

Type	Database	ID	Link
Gene	MIM	600211	OMIM
	HGNC	10472	HGNC
	Ensembl	ENSG00000124813	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-05-25	criteria provided, multiple submitters, no conflicts	Cleidocranial dysostosis	de novo germline	Detail
Pathogenic	2023-12-09	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-02-18	criteria provided, single submitter	Cleidocranial dysostosis,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	unknown	Detail
Pathogenic	2022-02-18	criteria provided, single submitter	Cleidocranial dysostosis,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	unknown	Detail
Pathogenic	2024-02-20	criteria provided, single submitter	RUNX2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.606	cleidocranial dysplasia	NA	CLINVAR		Detail
0.606	cleidocranial dysplasia	Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentati...	BeFree	24634175	Detail
0.002	Tooth, Supernumerary	Families whose affected members had several dental alterations such as multiple ...	BeFree	22023169	Detail
0.018	Central Core Myopathy (disorder)	On the basis of the structural analysis, this study further demonstrated that th...	BeFree	24634175	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) AND Cleidocranial dysostosis	ClinVar	Detail
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) AND not provided	ClinVar	Detail
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) AND multiple conditions	ClinVar	Detail
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) AND multiple conditions	ClinVar	Detail
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) AND RUNX2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis o...	DisGeNET	Detail
Families whose affected members had several dental alterations such as multiple impacted and supernu...	DisGeNET	Detail
On the basis of the structural analysis, this study further demonstrated that the p.R225Q mutation a...	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: rs104893991 dbSNP
Genome: hg38
Position: chr6:45,438,040-45,438,040
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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