ClinVar

NM_000161.3(GCH1):c.96C>T (p.Pro32=)

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: 54902568 (on Assembly GRCh38)
• Chr14: 55369286 (on Assembly GRCh37)

Preferred name:

NM_000161.3(GCH1):c.96C>T (p.Pro32=)

HGVS:

• NC_000014.9:g.54902568G>A
• NG_008647.1:g.5257C>T
• NG_008647.2:g.5258C>T
• NG_190113.1:g.128G>A
• NM_000161.3:c.96C>TMANE SELECT
• NM_001024024.2:c.96C>T
• NM_001024070.2:c.96C>T
• NM_001024071.2:c.96C>T
• NM_001424104.1:c.96C>T
• NP_000152.1:p.Pro32=
• NP_001019195.1:p.Pro32=
• NP_001019241.1:p.Pro32=
• NP_001019242.1:p.Pro32=
• NP_001411033.1:p.Pro32=
• NC_000014.8:g.55369286G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000161.3:c.96C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001024024.2:c.96C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001024070.2:c.96C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001024071.2:c.96C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424104.1:c.96C>T - synonymous variant - [Sequence Ontology: SO:0001819]