chr3:122284482:C>A Detail (hg38) (CASR)

Information

Genome

Assembly Position
hg19 chr3:122,003,329-122,003,329 View the variant detail on this assembly version.
hg38 chr3:122,284,482-122,284,482

HGVS

Type Transcript Protein
RefSeq NM_001178065.1:c.2558C>A NP_001171536.1:p.Ala853Glu
NM_000388.3:c.2528C>A NP_000379.2:p.Ala843Glu
Ensemble ENST00000490131.7:c.2297C>A ENST00000490131.7:p.Ala766Glu
Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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
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 2002-08-31 no assertion criteria provided Bartter syndrome with hypocalcemia germline Detail
Likely pathogenic criteria provided, single submitter autosomal dominant hypocalcemia 1 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.2528C>A (p.Ala843Glu) AND Bartter syndrome with hypocalcemia ClinVar Detail
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) AND Autosomal dominant hypocalcemia 1 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
rs104893706 dbSNP
Genome
hg38
Position
chr3:122,284,482-122,284,482
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser