chr3:121980562: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	chr3:121,980,562-121,980,562
hg38	chr3:122,261,715-122,261,715 View the variant detail on this assembly version.

HGVS

CASR

Type	Transcript	Protein
RefSeq	NM_001178065.1:c.680G>A	NP_001171536.1:p.Arg227Gln
	NM_000388.3:c.680G>A	NP_000379.2:p.Arg227Gln
Ensemble	ENST00000490131.7:c.680G>A	ENST00000490131.7:p.Arg227Gln
	ENST00000498619.4:c.680G>A	ENST00000498619.4:p.Arg227Gln
	ENST00000638421.1:c.680G>A	ENST00000638421.1:p.Arg227Gln
	ENST00000639785.2:c.680G>A	ENST00000639785.2:p.Arg227Gln

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	Pathogenic Likely 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	COSM373124	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1995-05-01	no assertion criteria provided	familial hypocalciuric hypercalcemia 1	germline	Detail
Pathogenic	2017-05-03	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-18	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2024-01-18	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2022-05-24	criteria provided, single submitter	familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2021-12-09	criteria provided, single submitter	autosomal dominant hypocalcemia 1,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism	unknown	Detail
Pathogenic	2021-12-09	criteria provided, single submitter	autosomal dominant hypocalcemia 1,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism	unknown	Detail
Pathogenic	2021-12-09	criteria provided, single submitter	autosomal dominant hypocalcemia 1,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism	unknown	Detail
Pathogenic	2021-12-09	criteria provided, single submitter	autosomal dominant hypocalcemia 1,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism	unknown	Detail
Likely pathogenic	2023-08-08	criteria provided, single submitter	Nephrolithiasis/nephrocalcinosis	germline	Detail
Pathogenic	2023-08-02	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
0.560	HYPERPARATHYROIDISM, NEONATAL SEVERE	Functional characterization of calcium-sensing receptor codon 227 mutations pres...	UNIPROT	15572418	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND Familial hypocalciuric hypercalcemia 1	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND not provided	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND Familial hypocalciuric hypercalcemia	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND Nephrolithiasis/nephrocalcinosis	ClinVar	Detail
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND CASR-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either fam...	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: rs28936684 dbSNP
Genome: hg19
Position: chr3:121,980,562-121,980,562
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8642
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): 121300
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): 8.244023083264634E-6

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