ClinVar

NM_000388.4(CASR):c.854G>A (p.Arg285Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

• Chr3: 122261889 (on Assembly GRCh38)
• Chr3: 121980736 (on Assembly GRCh37)

Preferred name:

NM_000388.4(CASR):c.854G>A (p.Arg285Gln)

HGVS:

• NC_000003.12:g.122261889G>A
• NG_009058.1:g.83207G>A
• NM_000388.4:c.854G>AMANE SELECT
• NM_001178065.2:c.854G>A
• NP_000379.3:p.Arg285Gln
• NP_001171536.2:p.Arg285Gln
• NC_000003.11:g.121980736G>A
• NM_000388.3:c.854G>A

This HGVS expression did not pass validation

Protein change:

R285Q

Links:

dbSNP: rs200039241

NCBI 1000 Genomes Browser:

rs200039241

Molecular consequence:

• NM_000388.4:c.854G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178065.2:c.854G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2