chr3:122003044:C>A Detail (hg19) (CASR)

Information

Genome

Assembly Position
hg19 chr3:122,003,044-122,003,044
hg38 chr3:122,284,197-122,284,197 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001178065.1:c.2273C>A NP_001171536.1:p.Pro758Gln
NM_000388.3:c.2243C>A NP_000379.2:p.Pro748Gln
Ensemble ENST00000490131.7:c.2012C>A ENST00000490131.7:p.Pro671Gln
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-10-19 criteria provided, single submitter familial hypocalciuric hypercalcemia germline Detail
Likely pathogenic 2017-03-10 criteria provided, single submitter not provided 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.2243C>A (p.Pro748Gln) AND Familial hypocalciuric hypercalcemia ClinVar Detail
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) AND not provided 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
rs193922433 dbSNP
Genome
hg19
Position
chr3:122,003,044-122,003,044
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser