chr3:122002546:G>A Detail (hg19) (CASR)

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

Genome

Assembly	Position
hg19	chr3:122,002,546-122,002,546
hg38	chr3:122,283,699-122,283,699 View the variant detail on this assembly version.

HGVS

CASR

Type	Transcript	Protein
RefSeq	NM_001178065.1:c.1775G>A	NP_001171536.1:p.Cys592Tyr
	NM_000388.3:c.1745G>A	NP_000379.2:p.Cys582Tyr
Ensemble	ENST00000490131.7:c.1514G>A	ENST00000490131.7:p.Cys505Tyr
	ENST00000498619.4:c.1775G>A	ENST00000498619.4:p.Cys592Tyr
	ENST00000638421.1:c.1745G>A	ENST00000638421.1:p.Cys582Tyr
	ENST00000639785.2:c.1745G>A	ENST00000639785.2:p.Cys582Tyr

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

CASR

Type	Database	ID	Link
Gene	MIM	601199	OMIM
	HGNC	1514	HGNC
	Ensembl	ENSG00000036828	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	1995-12-01	no assertion criteria provided	Neonatal severe primary hyperparathyroidism	germline	Detail
Pathogenic	2019-11-28	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2019-11-28	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	Familial benign hypercalcemia	NA	CLINVAR		Detail
0.560	HYPERPARATHYROIDISM, NEONATAL SEVERE	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) AND Neonatal severe primary hyperparathyroidism	ClinVar	Detail
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	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: rs104893690 dbSNP
Genome: hg19
Position: chr3:122,002,546-122,002,546
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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