chr3:46898691:A>G Detail (hg38) (PTH1R)

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

Genome

Assembly	Position
hg19	chr3:46,940,181-46,940,181 View the variant detail on this assembly version.
hg38	chr3:46,898,691-46,898,691

HGVS

PTH1R

Type	Transcript	Protein
RefSeq	NM_001184744.1:c.668A>G	NP_001171673.1:p.His223Arg
	NM_000316.2:c.668A>G	NP_000307.1:p.His223Arg
Ensemble	ENST00000313049.9:c.668A>G	ENST00000313049.9:p.His223Arg
	ENST00000418619.5:c.668A>G	ENST00000418619.5:p.His223Arg
	ENST00000430002.6:c.668A>G	ENST00000430002.6:p.His223Arg
	ENST00000449590.6:c.668A>G	ENST00000449590.6:p.His223Arg

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

PTH1R

Type	Database	ID	Link
Gene	MIM	168468	OMIM
	HGNC	9608	HGNC
	Ensembl	ENSG00000160801	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	1996-09-05	no assertion criteria provided	Metaphyseal chondrodysplasia, Jansen type	germline	Detail
Pathogenic	2022-05-04	criteria provided, single submitter	primary failure of tooth eruption	germline	Detail
Pathogenic	2024-01-15	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Jansen type metaphyseal chondrodysplasia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000316.3(PTH1R):c.668A>G (p.His223Arg) AND Metaphyseal chondrodysplasia, Jansen type	ClinVar	Detail
NM_000316.3(PTH1R):c.668A>G (p.His223Arg) AND Primary failure of tooth eruption	ClinVar	Detail
NM_000316.3(PTH1R):c.668A>G (p.His223Arg) AND not provided	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: rs121434597 dbSNP
Genome: hg38
Position: chr3:46,898,691-46,898,691
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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