ClinVar

NM_145262.4(GLYCTK):c.1285C>T (p.Arg429Cys)

Gene:

GLYCTK:glycerate kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.2

Genomic location:

• Chr3: 52292839 (on Assembly GRCh38)
• Chr3: 52326855 (on Assembly GRCh37)

Preferred name:

NM_145262.4(GLYCTK):c.1285C>T (p.Arg429Cys)

HGVS:

• NC_000003.12:g.52292839C>T
• NG_023246.1:g.10020C>T
• NM_001144951.2:c.*404C>T
• NM_145262.4:c.1285C>TMANE SELECT
• NP_660305.2:p.Arg429Cys
• NC_000003.11:g.52326855C>T
• NM_145262.3:c.1285C>T
• NR_026699.2:n.1375C>T
• NR_026701.2:n.1373C>T

This HGVS expression did not pass validation

Protein change:

R429C

Molecular consequence:

• NM_001144951.2:c.*404C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_145262.4:c.1285C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_026699.2:n.1375C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_026701.2:n.1373C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]