ClinVar

NM_000376.3(VDR):c.597G>A (p.Ser199=)

Gene:

VDR:vitamin D receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.11

Genomic location:

• Chr12: 47855788 (on Assembly GRCh38)
• Chr12: 48249571 (on Assembly GRCh37)

Preferred name:

NM_000376.3(VDR):c.597G>A (p.Ser199=)

HGVS:

• NC_000012.12:g.47855788C>T
• NG_008731.1:g.54244G>A
• NM_000376.3:c.597G>AMANE SELECT
• NM_001017535.2:c.597G>A
• NM_001017536.2:c.747G>A
• NM_001364085.2:c.597G>A
• NM_001374661.1:c.597G>A
• NM_001374662.1:c.597G>A
• NP_000367.1:p.Ser199=
• NP_001017535.1:p.Ser199=
• NP_001017536.1:p.Ser249=
• NP_001351014.1:p.Ser199=
• NP_001361590.1:p.Ser199=
• NP_001361591.1:p.Ser199=
• NC_000012.11:g.48249571C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000376.3:c.597G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001017535.2:c.597G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001017536.2:c.747G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364085.2:c.597G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374661.1:c.597G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374662.1:c.597G>A - synonymous variant - [Sequence Ontology: SO:0001819]