chr3:122257080:G>T 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	chr3:121,975,927-121,975,927 View the variant detail on this assembly version.
hg38	chr3:122,257,080-122,257,080

HGVS

CASR

Type	Transcript	Protein
RefSeq	NM_001178065.1:c.186-1G>T
	NM_000388.3:c.186-1G>T
Ensemble	ENST00000490131.7:c.186-1G>T
	ENST00000498619.4:c.186-1G>T
	ENST00000638421.1:c.186-1G>T
	ENST00000639785.2:c.186-1G>T

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-11-01	no assertion criteria provided	familial hypocalciuric hypercalcemia 1	germline	Detail
Pathogenic	2023-11-15	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2023-11-15	criteria provided, single submitter	autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia	germline	Detail
Pathogenic	2018-12-04	criteria provided, single submitter	Nephrolithiasis/nephrocalcinosis	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

Annotation

Annotations

Descrption	Source	Links
NM_000388.4(CASR):c.186-1G>T AND Familial hypocalciuric hypercalcemia 1	ClinVar	Detail
NM_000388.4(CASR):c.186-1G>T AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.186-1G>T AND multiple conditions	ClinVar	Detail
NM_000388.4(CASR):c.186-1G>T AND Nephrolithiasis/nephrocalcinosis	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs797044441 dbSNP
Genome: hg38
Position: chr3:122,257,080-122,257,080
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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