chr3:122283982: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	chr3:122,002,829-122,002,829 View the variant detail on this assembly version.
hg38	chr3:122,283,982-122,283,982

HGVS

CASR

Type	Transcript	Protein
RefSeq	NM_001178065.1:c.2058G>A	NP_001171536.1:p.Thr686=
	NM_000388.3:c.2028G>A	NP_000379.2:p.Thr676=
Ensemble	ENST00000490131.7:c.1797G>A	ENST00000490131.7:p.Thr599=
	ENST00000498619.4:c.2058G>A	ENST00000498619.4:p.Thr686=
	ENST00000638421.1:c.2028G>A	ENST00000638421.1:p.Thr676=
	ENST00000639785.2:c.2028G>A	ENST00000639785.2:p.Thr676=

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	Likely benign
Review star
Show details

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	tgv321084719	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2023-12-10	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Likely benign	2023-12-10	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Likely benign	2019-08-22	criteria provided, single submitter	Nephrolithiasis/nephrocalcinosis	germline	Detail
Likely benign	2021-01-21	criteria provided, single submitter	CASR-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000388.4(CASR):c.2028G>A (p.Thr676=) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.2028G>A (p.Thr676=) AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.2028G>A (p.Thr676=) AND Nephrolithiasis/nephrocalcinosis	ClinVar	Detail
NM_000388.4(CASR):c.2028G>A (p.Thr676=) AND CASR-related disorder	ClinVar	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: rs563112343 dbSNP
Genome: hg38
Position: chr3:122,283,982-122,283,982
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.3110700254217703E-4
Chromosome Counts in All Race (ExAC): 121214
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.299948850792813E-5

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