ClinVar

NM_000161.3(GCH1):c.556A>C (p.Thr186Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

• Chr14: 54845838 (on Assembly GRCh38)
• Chr14: 55312556 (on Assembly GRCh37)

Preferred name:

NM_000161.3(GCH1):c.556A>C (p.Thr186Pro)

HGVS:

• NC_000014.9:g.54845838T>G
• NG_008647.1:g.61987A>C
• NG_008647.2:g.61988A>C
• NM_000161.3:c.556A>CMANE SELECT
• NM_001024024.2:c.556A>C
• NM_001024070.2:c.556A>C
• NM_001024071.2:c.556A>C
• NP_000152.1:p.Thr186Pro
• NP_001019195.1:p.Thr186Pro
• NP_001019241.1:p.Thr186Pro
• NP_001019242.1:p.Thr186Pro
• NC_000014.8:g.55312556T>G

This HGVS expression did not pass validation

Protein change:

T186P

Molecular consequence:

• NM_000161.3:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024024.2:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024070.2:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024071.2:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1