ClinVar

NM_000161.3(GCH1):c.-40C>T

Genes:

LOC130055692:ATAC-STARR-seq lymphoblastoid silent region 5776 [Gene]
GCH1:GTP cyclohydrolase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

• Chr14: 54902703 (on Assembly GRCh38)
• Chr14: 55369421 (on Assembly GRCh37)

Preferred name:

NM_000161.3(GCH1):c.-40C>T

HGVS:

• NC_000014.9:g.54902703G>A
• NG_008647.1:g.5122C>T
• NM_000161.3:c.-40C>TMANE SELECT
• NM_001024024.2:c.-40C>T
• NM_001024070.2:c.-40C>T
• NM_001024071.2:c.-40C>T
• NC_000014.8:g.55369421G>A
• NM_000161.2:c.-40C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs28458175

NCBI 1000 Genomes Browser:

rs28458175

Molecular consequence:

• NM_000161.3:c.-40C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001024024.2:c.-40C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001024070.2:c.-40C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001024071.2:c.-40C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]