ClinVar

NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

• Chr14: 54844025 (on Assembly GRCh38)
• Chr14: 55310743 (on Assembly GRCh37)

Preferred name:

NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)

HGVS:

• NC_000014.9:g.54844025T>C
• NG_008647.1:g.63800A>G
• NM_000161.3:c.745A>GMANE SELECT
• NM_001024024.2:c.745A>G
• NM_001024070.2:c.627-156A>G
• NM_001024071.2:c.627-971A>G
• NP_000152.1:p.Arg249Gly
• NP_001019195.1:p.Arg249Gly
• NC_000014.8:g.55310743T>C
• NM_000161.2:c.745A>G

This HGVS expression did not pass validation

Protein change:

R249G

Links:

dbSNP: rs2039600745

NCBI 1000 Genomes Browser:

rs2039600745

Molecular consequence:

• NM_001024070.2:c.627-156A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024071.2:c.627-971A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000161.3:c.745A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024024.2:c.745A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1