ClinVar

NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

• Chr3: 122284170 (on Assembly GRCh38)
• Chr3: 122003017 (on Assembly GRCh37)

Preferred name:

NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr)

HGVS:

• NC_000003.12:g.122284170G>A
• NG_009058.1:g.105488G>A
• NM_000388.4:c.2216G>AMANE SELECT
• NM_001178065.2:c.2246G>A
• NP_000379.3:p.Cys739Tyr
• NP_001171536.2:p.Cys749Tyr
• NC_000003.11:g.122003017G>A
• NM_000388.2:c.2216G>A
• NM_000388.3:c.2216G>A
• p.CYS739TYR

This HGVS expression did not pass validation

Protein change:

C739Y

Links:

dbSNP: rs375468610

NCBI 1000 Genomes Browser:

rs375468610

Molecular consequence:

• NM_000388.4:c.2216G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178065.2:c.2246G>A - missense variant - [Sequence Ontology: SO:0001583]