ClinVar

NM_000161.3(GCH1):c.747G>C (p.Arg249Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

• Chr14: 54844023 (on Assembly GRCh38)
• Chr14: 55310741 (on Assembly GRCh37)

Preferred name:

NM_000161.3(GCH1):c.747G>C (p.Arg249Ser)

HGVS:

• NC_000014.9:g.54844023C>G
• NG_008647.1:g.63802G>C
• NM_000161.3:c.747G>CMANE SELECT
• NM_001024024.2:c.747G>C
• NM_001024070.2:c.627-154G>C
• NM_001024071.2:c.627-969G>C
• NP_000152.1:p.Arg249Ser
• NP_001019195.1:p.Arg249Ser
• NC_000014.8:g.55310741C>G
• NM_000161.2:c.747G>C
• P30793:p.Arg249Ser
• p.ARG249SER

This HGVS expression did not pass validation

Protein change:

R249S; ARG249SER

Links:

UniProtKB: P30793#VAR_016907; OMIM: 600225.0016; dbSNP: rs104894442

NCBI 1000 Genomes Browser:

rs104894442

Molecular consequence:

• NM_001024070.2:c.627-154G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024071.2:c.627-969G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000161.3:c.747G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024024.2:c.747G>C - missense variant - [Sequence Ontology: SO:0001583]