chr3:122282189:GC>CT Detail (hg38) (CASR)

Information

Genome

Assembly Position
hg19 chr3:122,001,036-122,001,037 View the variant detail on this assembly version.
hg38 chr3:122,282,189-122,282,190

HGVS

Type Transcript Protein
RefSeq NM_001178065.1:c.1715_1716delinsCT NP_001171536.1:p.Cys572Ser
NM_000388.3:c.1685_1686delinsCT NP_000379.2:p.Cys562Ser
Ensemble ENST00000490131.7:c.1454_1455delinsCT ENST00000490131.7:p.Cys485Ser
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2011-08-18 criteria provided, single submitter familial hypocalciuric hypercalcemia germline Detail
Uncertain significance 2022-08-17 criteria provided, single submitter autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia germline Detail
Uncertain significance 2022-08-17 criteria provided, single submitter autosomal dominant hypocalcemia 1,familial hypocalciuric hypercalcemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.588 Hypocalciuric hypercalcemia, familial, type 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) AND Familial hypocalciuric hypercalcemia ClinVar Detail
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) 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
rs193922427 dbSNP
Genome
hg38
Position
chr3:122,282,189-122,282,190
Variant Type
snv
Reference Allele
GC
Alternative Allele
CT
Genome browser