ClinVar

NM_000161.3(GCH1):c.*441G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

• Chr14: 54843576 (on Assembly GRCh38)
• Chr14: 55310294 (on Assembly GRCh37)

Preferred name:

NM_000161.3(GCH1):c.*441G>A

HGVS:

• NC_000014.9:g.54843576C>T
• NG_008647.1:g.64249G>A
• NM_000161.3:c.*441G>AMANE SELECT
• NM_001024024.2:c.*16+425G>A
• NM_001024070.2:c.*12+206G>A
• NM_001024071.2:c.627-522G>A
• NC_000014.8:g.55310294C>T
• NM_000161.2:c.*441G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs146536998

NCBI 1000 Genomes Browser:

rs146536998

Molecular consequence:

• NM_000161.3:c.*441G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001024024.2:c.*16+425G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024070.2:c.*12+206G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024071.2:c.627-522G>A - intron variant - [Sequence Ontology: SO:0001627]