chr3:46898772:T>C 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	chr3:46,940,262-46,940,262 View the variant detail on this assembly version.
hg38	chr3:46,898,772-46,898,772

HGVS

PTH1R

Type	Transcript	Protein
RefSeq	NM_001184744.1:c.749T>C	NP_001171673.1:p.Leu250Pro
	NM_000316.2:c.749T>C	NP_000307.1:p.Leu250Pro
Ensemble	ENST00000313049.9:c.749T>C	ENST00000313049.9:p.Leu250Pro
	ENST00000418619.5:c.749T>C	ENST00000418619.5:p.Leu250Pro
	ENST00000430002.6:c.749T>C	ENST00000430002.6:p.Leu250Pro
	ENST00000449590.6:c.749T>C	ENST00000449590.6:p.Leu250Pro

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	Uncertain significance
Review star
Show details

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	tgv317903601	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2024-01-18	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-02-03	criteria provided, single submitter	Eiken syndrome,chondrodysplasia Blomstrand type,primary failure of tooth eruption,Metaphyseal chondrodysplasia, Jansen type	unknown	Detail
Uncertain significance	2022-02-03	criteria provided, single submitter	Eiken syndrome,chondrodysplasia Blomstrand type,primary failure of tooth eruption,Metaphyseal chondrodysplasia, Jansen type	unknown	Detail
Uncertain significance	2022-02-03	criteria provided, single submitter	Eiken syndrome,chondrodysplasia Blomstrand type,primary failure of tooth eruption,Metaphyseal chondrodysplasia, Jansen type	unknown	Detail
Uncertain significance	2022-02-03	criteria provided, single submitter	Eiken syndrome,chondrodysplasia Blomstrand type,primary failure of tooth eruption,Metaphyseal chondrodysplasia, Jansen type	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) AND not provided	ClinVar	Detail
NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) AND multiple conditions	ClinVar	Detail
NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) AND multiple conditions	ClinVar	Detail
NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) AND multiple conditions	ClinVar	Detail
NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) AND multiple conditions	ClinVar	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: rs547682383 dbSNP
Genome: hg38
Position: chr3:46,898,772-46,898,772
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 6518
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): 97492
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.0257251877077094E-5

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