chr3:122254304:C>G 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	chr3:121,973,151-121,973,151 View the variant detail on this assembly version.
hg38	chr3:122,254,304-122,254,304

HGVS

CASR

Type	Transcript	Protein
RefSeq	NM_001178065.1:c.115C>G	NP_001171536.1:p.Pro39Ala
	NM_000388.3:c.115C>G	NP_000379.2:p.Pro39Ala
Ensemble	ENST00000490131.7:c.115C>G	ENST00000490131.7:p.Pro39Ala
	ENST00000498619.4:c.115C>G	ENST00000498619.4:p.Pro39Ala
	ENST00000638421.1:c.115C>G	ENST00000638421.1:p.Pro39Ala
	ENST00000639785.2:c.115C>G	ENST00000639785.2:p.Pro39Ala

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	1995-09-01	no assertion criteria provided	familial hypocalciuric hypercalcemia 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.588	Hypocalciuric hypercalcemia, familial, type 1	A 44-year-old female with familial hypocalciuric hypercalcemia (FHH) due to a ho...	BeFree	11095989	Detail
0.588	Hypocalciuric hypercalcemia, familial, type 1	Functional capacity of CaSRQ459R and CaSR mutants causing FHH (Q27R, P39A, S417C...	BeFree	24517148	Detail
0.241	Familial benign hypercalcemia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000388.4(CASR):c.115C>G (p.Pro39Ala) AND Familial hypocalciuric hypercalcemia 1	ClinVar	Detail
A 44-year-old female with familial hypocalciuric hypercalcemia (FHH) due to a homozygous missense mu...	DisGeNET	Detail
Functional capacity of CaSRQ459R and CaSR mutants causing FHH (Q27R, P39A, S417C) or neonatal severe...	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: rs121909262 dbSNP
Genome: hg38
Position: chr3:122,254,304-122,254,304
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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