chr3:122257308:C>T Detail (hg38) (CASR)

Information

Genome

Assembly Position
hg19 chr3:121,976,155-121,976,155 View the variant detail on this assembly version.
hg38 chr3:122,257,308-122,257,308

HGVS

Type Transcript Protein
RefSeq NM_001178065.1:c.413C>T NP_001171536.1:p.Thr138Met
NM_000388.3:c.413C>T NP_000379.2:p.Thr138Met
Ensemble ENST00000490131.7:c.413C>T ENST00000490131.7:p.Thr138Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 1995-05-01 no assertion criteria provided familial hypocalciuric hypercalcemia 1 germline Detail
Likely pathogenic 2023-09-06 criteria provided, single submitter familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 germline Detail
Likely pathogenic 2023-09-06 criteria provided, single submitter familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 germline Detail
Likely pathogenic 2021-10-19 criteria provided, single submitter Epilepsy, idiopathic generalized, susceptibility to, 8,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism unknown Detail
Likely pathogenic 2021-10-19 criteria provided, single submitter Epilepsy, idiopathic generalized, susceptibility to, 8,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism unknown Detail
Likely pathogenic 2021-10-19 criteria provided, single submitter Epilepsy, idiopathic generalized, susceptibility to, 8,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism unknown Detail
Likely pathogenic 2021-10-19 criteria provided, single submitter Epilepsy, idiopathic generalized, susceptibility to, 8,autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia 1,Neonatal severe primary hyperparathyroidism unknown Detail
Pathogenic 2023-03-07 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-09-16 criteria provided, single submitter Nephrolithiasis/nephrocalcinosis germline Detail
Likely pathogenic 2022-11-21 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
Annotation

Annotations

DescrptionSourceLinks
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND Familial hypocalciuric hypercalcemia 1 ClinVar Detail
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND not provided ClinVar Detail
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND Nephrolithiasis/nephrocalcinosis ClinVar Detail
NM_000388.4(CASR):c.413C>T (p.Thr138Met) AND CASR-related disorder ClinVar 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
rs121909263 dbSNP
Genome
hg38
Position
chr3:122,257,308-122,257,308
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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