ClinVar

NM_000388.4(CASR):c.2465T>C (p.Ile822Thr)

Gene:

CASR:calcium sensing receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

• Chr3: 122284419 (on Assembly GRCh38)
• Chr3: 122003266 (on Assembly GRCh37)

Preferred name:

NM_000388.4(CASR):c.2465T>C (p.Ile822Thr)

HGVS:

• NC_000003.12:g.122284419T>C
• NG_009058.1:g.105737T>C
• NM_000388.4:c.2465T>CMANE SELECT
• NM_001178065.2:c.2495T>C
• NP_000379.3:p.Ile822Thr
• NP_001171536.2:p.Ile832Thr
• NC_000003.11:g.122003266T>C
• NM_000388.3:c.2465T>C

This HGVS expression did not pass validation

Protein change:

I822T

Links:

dbSNP: rs1553769120

NCBI 1000 Genomes Browser:

rs1553769120

Molecular consequence:

• NM_000388.4:c.2465T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178065.2:c.2495T>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Increased function

Observations:

1