chr3:121980436: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	chr3:121,980,436-121,980,436
hg38	chr3:122,261,589-122,261,589 View the variant detail on this assembly version.

HGVS

CASR

Type	Transcript	Protein
RefSeq	NM_001178065.1:c.554G>A	NP_001171536.1:p.Arg185Gln
	NM_000388.3:c.554G>A	NP_000379.2:p.Arg185Gln
Ensemble	ENST00000490131.7:c.554G>A	ENST00000490131.7:p.Arg185Gln
	ENST00000498619.4:c.554G>A	ENST00000498619.4:p.Arg185Gln
	ENST00000638421.1:c.554G>A	ENST00000638421.1:p.Arg185Gln
	ENST00000639785.2:c.554G>A	ENST00000639785.2:p.Arg185Gln

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	COSM3121238	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-03-23	criteria provided, multiple submitters, no conflicts	familial hypocalciuric hypercalcemia 1	de novo germline maternal unknown	Detail
Pathogenic	1997-01-01	no assertion criteria provided	Neonatal severe primary hyperparathyroidism	germline	Detail
Pathogenic	2023-03-27	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-09-15	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2023-09-15	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2021-12-17	criteria provided, single submitter	familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2022-05-09	criteria provided, single submitter	Epilepsy, idiopathic generalized, susceptibility to, 8,Neonatal severe primary hyperparathyroidism,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1	unknown	Detail
Pathogenic	2022-05-09	criteria provided, single submitter	Epilepsy, idiopathic generalized, susceptibility to, 8,Neonatal severe primary hyperparathyroidism,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1	unknown	Detail
Pathogenic	2022-05-09	criteria provided, single submitter	Epilepsy, idiopathic generalized, susceptibility to, 8,Neonatal severe primary hyperparathyroidism,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1	unknown	Detail
Pathogenic	2022-05-09	criteria provided, single submitter	Epilepsy, idiopathic generalized, susceptibility to, 8,Neonatal severe primary hyperparathyroidism,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1	unknown	Detail
Pathogenic	2023-05-23	criteria provided, single submitter	CASR-related disorder	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
0.001	Neonatal hyperparathyroidism	Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR)...	BeFree	21289269	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND Familial hypocalciuric hypercalcemia 1	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND Neonatal severe primary hyperparathyroidism	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND not provided	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND Familial hypocalciuric hypercalcemia	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND CASR-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: cli...	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: rs104893689 dbSNP
Genome: hg19
Position: chr3:121,980,436-121,980,436
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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