chr3:122283896:C>G Detail (hg38) (CASR)

Information

Genome

Assembly Position
hg19 chr3:122,002,743-122,002,743 View the variant detail on this assembly version.
hg38 chr3:122,283,896-122,283,896

HGVS

Type Transcript Protein
RefSeq NM_001178065.1:c.1972C>G NP_001171536.1:p.Arg658Gly
NM_000388.3:c.1942C>G NP_000379.2:p.Arg648Gly
Ensemble ENST00000490131.7:c.1711C>G ENST00000490131.7:p.Arg571Gly
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 Uncertain significance
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
Uncertain significance 2023-04-06 criteria provided, single submitter familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 germline Detail
Uncertain significance 2023-04-06 criteria provided, single submitter familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 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
0.588 Hypocalciuric hypercalcemia, familial, type 1 This report is the first to show that an R648stop CaR mutation yields a truncate... BeFree 12469911 Detail
0.588 Hypocalciuric hypercalcemia, familial, type 1 We have identified a novel R648X mutation in the CaSR gene in one patient with F... BeFree 11231970 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000388.4(CASR):c.1942C>G (p.Arg648Gly) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.1942C>G (p.Arg648Gly) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
This report is the first to show that an R648stop CaR mutation yields a truncated receptor that is e... DisGeNET Detail
We have identified a novel R648X mutation in the CaSR gene in one patient with FHH in Taiwan 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
-
Genome
hg38
Position
chr3:122,283,896-122,283,896
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121294
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.244430886935875E-6
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