ClinVar

NM_000376.3(VDR):c.*222G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.11

Genomic location:

• Chr12: 47844524 (on Assembly GRCh38)
• Chr12: 48238307 (on Assembly GRCh37)

Preferred name:

NM_000376.3(VDR):c.*222G>C

HGVS:

• NC_000012.12:g.47844524C>G
• NG_008731.1:g.65508G>C
• NM_000376.3:c.*222G>CMANE SELECT
• NM_001017535.2:c.*222G>C
• NM_001017536.2:c.*222G>C
• NM_001364085.2:c.*21G>C
• NM_001374661.1:c.*222G>C
• NM_001374662.1:c.*222G>C
• NC_000012.11:g.48238307C>G
• NM_001017535.1:c.*222G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs11574117

NCBI 1000 Genomes Browser:

rs11574117

Molecular consequence:

• NM_000376.3:c.*222G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001017535.2:c.*222G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001017536.2:c.*222G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001364085.2:c.*21G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001374661.1:c.*222G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001374662.1:c.*222G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]