ClinVar

NM_001002002.3(GMPR2):c.812C>T (p.Ser271Phe)

Gene:

GMPR2:guanosine monophosphate reductase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

• Chr14: 24238360 (on Assembly GRCh38)
• Chr14: 24707566 (on Assembly GRCh37)

Preferred name:

NM_001002002.3(GMPR2):c.812C>T (p.Ser271Phe)

HGVS:

• NC_000014.9:g.24238360C>T
• NG_016650.1:g.9315G>A
• NG_054634.1:g.10944C>T
• NM_001002000.3:c.812C>T
• NM_001002001.3:c.812C>T
• NM_001002002.3:c.812C>TMANE SELECT
• NM_001283021.2:c.704C>T
• NM_001283022.2:c.866C>T
• NM_001283023.2:c.728C>T
• NM_001351022.2:c.812C>T
• NM_001351023.2:c.812C>T
• NM_001351024.2:c.704C>T
• NM_001351025.2:c.704C>T
• NM_001351026.2:c.704C>T
• NM_016576.5:c.866C>T
• NP_001002000.1:p.Ser271Phe
• NP_001002001.1:p.Ser271Phe
• NP_001002002.1:p.Ser271Phe
• NP_001269950.1:p.Ser235Phe
• NP_001269951.1:p.Ser289Phe
• NP_001269952.1:p.Ser243Phe
• NP_001337951.1:p.Ser271Phe
• NP_001337952.1:p.Ser271Phe
• NP_001337953.1:p.Ser235Phe
• NP_001337954.1:p.Ser235Phe
• NP_001337955.1:p.Ser235Phe
• NP_057660.2:p.Ser289Phe
• LRG_342:g.9315G>A
• NC_000014.8:g.24707566C>T
• NM_001002001.1:c.812C>T
• NR_104265.2:n.1097C>T

This HGVS expression did not pass validation

Protein change:

S235F

Links:

dbSNP: rs386352308

NCBI 1000 Genomes Browser:

rs386352308

Molecular consequence:

• NM_001002000.3:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001002001.3:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001002002.3:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283021.2:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283022.2:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283023.2:c.728C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351022.2:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351023.2:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351024.2:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351025.2:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351026.2:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016576.5:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104265.2:n.1097C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]