chr3:121980544:C>T 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	chr3:121,980,544-121,980,544
hg38	chr3:122,261,697-122,261,697 View the variant detail on this assembly version.

HGVS

CASR

Type	Transcript	Protein
RefSeq	NM_001178065.1:c.662C>T	NP_001171536.1:p.Pro221Leu
	NM_000388.3:c.662C>T	NP_000379.2:p.Pro221Leu
Ensemble	ENST00000498619.4:c.662C>T	ENST00000498619.4:p.Pro221Leu
	ENST00000490131.7:c.662C>T	ENST00000490131.7:p.Pro221Leu
	ENST00000638421.1:c.662C>T	ENST00000638421.1:p.Pro221Leu
	ENST00000639785.2:c.662C>T	ENST00000639785.2:p.Pro221Leu

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

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

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	2012-06-15	no assertion criteria provided	autosomal dominant hypocalcemia 1	germline	Detail
Pathogenic	2021-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-06-23	criteria provided, single submitter	familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1	germline	Detail
Pathogenic	2023-06-23	criteria provided, single submitter	familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1	germline	Detail
Pathogenic	2022-09-05	criteria provided, multiple submitters, no conflicts	autosomal dominant hypocalcemia	germline	Detail
Pathogenic	2021-10-23	criteria provided, single submitter	Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1	unknown	Detail
Pathogenic	2021-10-23	criteria provided, single submitter	Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1	unknown	Detail
Pathogenic	2021-10-23	criteria provided, single submitter	Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1	unknown	Detail
Pathogenic	2021-10-23	criteria provided, single submitter	Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1	unknown	Detail
Pathogenic	2023-09-12	criteria provided, single submitter	Nephrolithiasis/nephrocalcinosis	germline	Detail
Pathogenic	2024-01-31	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
0.131	Hypoparathyroidism - autosomal dominant	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND Autosomal dominant hypocalcemia 1	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND not provided	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND Autosomal dominant hypocalcemia	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND Nephrolithiasis/nephrocalcinosis	ClinVar	Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND CASR-related disorder	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: rs397514728 dbSNP
Genome: hg19
Position: chr3:121,980,544-121,980,544
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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