ClinVar

NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)

Gene:

GMPPB:GDP-mannose pyrophosphorylase B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 49721985 (on Assembly GRCh38)
• Chr3: 49759418 (on Assembly GRCh37)

Preferred name:

NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)

HGVS:

• NC_000003.12:g.49721985G>A
• NG_011603.1:g.37429G>A
• NG_033731.1:g.6990C>T
• NG_033731.2:g.6990C>T
• NM_013334.4:c.931C>T
• NM_021971.4:c.931C>TMANE SELECT
• NP_037466.2:p.Arg311Cys
• NP_037466.3:p.Arg311Cys
• NP_068806.2:p.Arg311Cys
• NC_000003.11:g.49759418G>A
• NM_013334.2:c.931C>T
• NM_013334.3:c.931C>T
• NM_021971.2:c.931C>T

This HGVS expression did not pass validation

Protein change:

R311C

Links:

dbSNP: rs371188899

NCBI 1000 Genomes Browser:

rs371188899

Molecular consequence:

• NM_013334.4:c.931C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021971.4:c.931C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1