chr3:121976116:T>C Detail (hg19) (CASR)

Information

Genome

Assembly Position
hg19 chr3:121,976,116-121,976,116
hg38 chr3:122,257,269-122,257,269 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001178065.1:c.374T>C NP_001171536.1:p.Leu125Pro
NM_000388.3:c.374T>C NP_000379.2:p.Leu125Pro
Ensemble ENST00000490131.7:c.374T>C ENST00000490131.7:p.Leu125Pro
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic hypocalcemia germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-02-28 criteria provided, single submitter autosomal dominant hypocalcemia 1 germline Detail
Pathogenic 2002-09-01 no assertion criteria provided Bartter syndrome with hypocalcemia germline Detail
Likely pathogenic 2021-05-11 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-11-16 criteria provided, single submitter familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1,Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8 unknown Detail
Pathogenic 2021-11-16 criteria provided, single submitter familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1,Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8 unknown Detail
Pathogenic 2021-11-16 criteria provided, single submitter familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1,Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8 unknown Detail
Pathogenic 2021-11-16 criteria provided, single submitter familial hypocalciuric hypercalcemia 1,autosomal dominant hypocalcemia 1,Neonatal severe primary hyperparathyroidism,Epilepsy, idiopathic generalized, susceptibility to, 8 unknown Detail
Uncertain significance 2023-11-06 criteria provided, single submitter autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia germline Detail
Uncertain significance 2023-11-06 criteria provided, single submitter autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.131 Hypoparathyroidism - autosomal dominant NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND Autosomal dominant hypocalcemia 1 ClinVar Detail
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND Bartter syndrome with hypocalcemia ClinVar Detail
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND not provided ClinVar Detail
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) AND multiple conditions 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
rs104893708 dbSNP
Genome
hg19
Position
chr3:121,976,116-121,976,116
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser