chr3:122261588:C>T Detail (hg38) (CASR)

Information

Genome

Assembly Position
hg19 chr3:121,980,435-121,980,435 View the variant detail on this assembly version.
hg38 chr3:122,261,588-122,261,588

HGVS

Type Transcript Protein
RefSeq NM_001178065.1:c.553C>T NP_001171536.1:p.Arg185Ter
NM_000388.3:c.553C>T NP_000379.2:p.Arg185Ter
Ensemble ENST00000490131.7:c.553C>T ENST00000490131.7:p.Arg185Ter
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 tgv193248993 TogoVar
COSMIC COSM4398118 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000174)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-01-13 criteria provided, single submitter Neonatal severe primary hyperparathyroidism germline Detail
Pathogenic 2019-01-18 criteria provided, single submitter autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia germline Detail
Pathogenic 2019-01-18 criteria provided, single submitter autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 HYPERPARATHYROIDISM, NEONATAL SEVERE NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) AND Neonatal severe primary hyperparathyroidism ClinVar Detail
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) 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
rs104893707 dbSNP
Genome
hg38
Position
chr3:122,261,588-122,261,588
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser