ClinVar

NM_000388.4(CASR):c.573G>A (p.Glu191=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

• Chr3: 122261608 (on Assembly GRCh38)
• Chr3: 121980455 (on Assembly GRCh37)

Preferred name:

NM_000388.4(CASR):c.573G>A (p.Glu191=)

HGVS:

• NC_000003.12:g.122261608G>A
• NG_009058.1:g.82926G>A
• NM_000388.4:c.573G>AMANE SELECT
• NM_001178065.2:c.573G>A
• NP_000379.3:p.Glu191=
• NP_001171536.2:p.Glu191=
• NC_000003.11:g.121980455G>A
• NM_000388.3:c.573G>A
• p.Glu191Glu

This HGVS expression did not pass validation

Links:

dbSNP: rs141631116

NCBI 1000 Genomes Browser:

rs141631116

Molecular consequence:

• NM_000388.4:c.573G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178065.2:c.573G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1