chr3:122261697:C>T Detail (hg38) (CASR)

Information

Genome

Assembly Position
hg19 chr3:121,980,544-121,980,544 View the variant detail on this assembly version.
hg38 chr3:122,261,697-122,261,697

HGVS

Type Transcript Protein
RefSeq NM_001178065.1:c.662C>T NP_001171536.1:p.Pro221Leu
NM_000388.3:c.662C>T NP_000379.2:p.Pro221Leu
Ensemble ENST00000490131.7:c.662C>T ENST00000490131.7:p.Pro221Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 tgv193248995 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000138)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-06-15 no assertion criteria provided autosomal dominant hypocalcemia 1 germline Detail
Pathogenic 2021-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-06-23 criteria provided, single submitter familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 germline Detail
Pathogenic 2023-06-23 criteria provided, single submitter familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 germline Detail
Pathogenic 2022-09-05 criteria provided, multiple submitters, no conflicts autosomal dominant hypocalcemia germline Detail
Pathogenic 2021-10-23 criteria provided, single submitter Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1 unknown Detail
Pathogenic 2021-10-23 criteria provided, single submitter Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1 unknown Detail
Pathogenic 2021-10-23 criteria provided, single submitter Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1 unknown Detail
Pathogenic 2021-10-23 criteria provided, single submitter Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8,familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1 unknown Detail
Pathogenic 2023-09-12 criteria provided, single submitter Nephrolithiasis/nephrocalcinosis germline Detail
Pathogenic 2024-01-31 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
0.131 Hypoparathyroidism - autosomal dominant NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND Autosomal dominant hypocalcemia 1 ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND not provided ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND Autosomal dominant hypocalcemia ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND Nephrolithiasis/nephrocalcinosis ClinVar Detail
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) AND CASR-related disorder ClinVar Detail
NA 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
rs397514728 dbSNP
Genome
hg38
Position
chr3:122,261,697-122,261,697
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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