chr3:121980562:G>T Detail (hg19) (CASR)

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

Type Transcript Protein
RefSeq NM_001178065.1:c.680G>T NP_001171536.1:p.Arg227Leu
NM_000388.3:c.680G>T NP_000379.2:p.Arg227Leu
Ensemble ENST00000490131.7:c.680G>T ENST00000490131.7:p.Arg227Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 2005-02-01 no assertion criteria provided Neonatal severe primary hyperparathyroidism germline Detail
Pathogenic 2022-05-09 criteria provided, single submitter autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia germline Detail
Pathogenic 2022-05-09 criteria provided, single submitter autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia germline Detail
Pathogenic 2024-01-17 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

DescrptionSourceLinks
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) AND Neonatal severe primary hyperparathyroidism ClinVar Detail
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) 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
T
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