chr3:122283764:G>A Detail (hg38) (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	chr3:122,002,611-122,002,611 View the variant detail on this assembly version.
hg38	chr3:122,283,764-122,283,764

HGVS

CASR

Type	Transcript	Protein
RefSeq	NM_001178065.1:c.1840G>A	NP_001171536.1:p.Glu614Lys
	NM_000388.3:c.1810G>A	NP_000379.2:p.Glu604Lys
Ensemble	ENST00000490131.7:c.1579G>A	ENST00000490131.7:p.Glu527Lys
	ENST00000498619.4:c.1840G>A	ENST00000498619.4:p.Glu614Lys
	ENST00000638421.1:c.1810G>A	ENST00000638421.1:p.Glu604Lys
	ENST00000639785.2:c.1810G>A	ENST00000639785.2:p.Glu604Lys

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	COSM3121288	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-07-02	no assertion criteria provided	autosomal dominant hypocalcemia 1	germline	Detail
Pathogenic	2021-07-22	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2021-12-01	criteria provided, single submitter	autosomal dominant hypocalcemia	germline	Detail
Pathogenic	2022-09-12	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2022-09-12	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2023-09-11	criteria provided, single submitter	Nephrolithiasis/nephrocalcinosis	germline	Detail
Pathogenic	2023-12-19	criteria provided, single submitter	CASR-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.131	Hypoparathyroidism - autosomal dominant	NA	CLINVAR		Detail
0.131	Hypoparathyroidism - autosomal dominant	Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cyst...	BeFree	12574188	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND Autosomal dominant hypocalcemia 1	ClinVar	Detail
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND not provided	ClinVar	Detail
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND Autosomal dominant hypocalcemia	ClinVar	Detail
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND Nephrolithiasis/nephrocalcinosis	ClinVar	Detail
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) AND CASR-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of ...	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: rs104893712 dbSNP
Genome: hg38
Position: chr3:122,283,764-122,283,764
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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