ClinVar

NM_000161.3(GCH1):c.601G>T (p.Gly201Ter)

Gene:

GCH1:GTP cyclohydrolase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

• Chr14: 54845793 (on Assembly GRCh38)
• Chr14: 55312511 (on Assembly GRCh37)

Preferred name:

NM_000161.3(GCH1):c.601G>T (p.Gly201Ter)

HGVS:

• NC_000014.9:g.54845793C>A
• NG_008647.1:g.62032G>T
• NM_000161.3:c.601G>TMANE SELECT
• NM_001024024.2:c.601G>T
• NM_001024070.2:c.601G>T
• NM_001024071.2:c.601G>T
• NP_000152.1:p.Gly201Ter
• NP_001019195.1:p.Gly201Ter
• NP_001019241.1:p.Gly201Ter
• NP_001019242.1:p.Gly201Ter
• NC_000014.8:g.55312511C>A

This HGVS expression did not pass validation

Protein change:

G201*

Links:

dbSNP: rs2140041673

NCBI 1000 Genomes Browser:

rs2140041673

Molecular consequence:

• NM_000161.3:c.601G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001024024.2:c.601G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001024070.2:c.601G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001024071.2:c.601G>T - nonsense - [Sequence Ontology: SO:0001587]