chr3:122257164:A>C Detail (hg38) (CASR)

Information

Genome

Assembly Position
hg19 chr3:121,976,011-121,976,011 View the variant detail on this assembly version.
hg38 chr3:122,257,164-122,257,164

HGVS

Type Transcript Protein
RefSeq NM_001178065.1:c.269A>C NP_001171536.1:p.Asn90Thr
NM_000388.3:c.269A>C NP_000379.2:p.Asn90Thr
Ensemble ENST00000490131.7:c.269A>C ENST00000490131.7:p.Asn90Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
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 2023-12-26 criteria provided, single submitter familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 germline Detail
Uncertain significance 2023-12-26 criteria provided, single submitter familial hypocalciuric hypercalcemia,autosomal dominant hypocalcemia 1 germline Detail
Uncertain significance 2023-10-30 no assertion criteria provided Neonatal severe primary hyperparathyroidism germline Detail
Uncertain significance 2022-04-06 criteria provided, single submitter Nephrolithiasis/nephrocalcinosis 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.269A>C (p.Asn90Thr) AND Familial hypocalciuric hypercalcemia ClinVar Detail
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) AND multiple conditions ClinVar Detail
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) AND Neonatal severe primary hyperparathyroidism ClinVar Detail
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) AND Nephrolithiasis/nephrocalcinosis 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
rs193922439 dbSNP
Genome
hg38
Position
chr3:122,257,164-122,257,164
Variant Type
snv
Reference Allele
A
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.236825198095647E-6
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