ClinVar

NM_000161.3(GCH1):c.*1056_*1057insAT

Gene:

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

Variant type:

Insertion

Cytogenetic location:

14q22.2

Genomic location:

• Chr14: 54842960 - 54842961 (on Assembly GRCh38)
• Chr14: 55309678 - 55309679 (on Assembly GRCh37)

Preferred name:

NM_000161.3(GCH1):c.*1056_*1057insAT

HGVS:

• NC_000014.9:g.54842960_54842961insAT
• NG_008647.1:g.64864_64865insAT
• NM_000161.3:c.*1056_*1057insATMANE SELECT
• NM_001024024.2:c.*110_*111insAT
• NM_001024070.2:c.*106_*107insAT
• NM_001024071.2:c.*78_*79insAT
• NC_000014.8:g.55309678_55309679insAT
• NM_000161.2:c.*1056_*1057insAT

This HGVS expression did not pass validation

Links:

dbSNP: rs144676716

NCBI 1000 Genomes Browser:

rs144676716

Molecular consequence:

• NM_000161.3:c.*1056_*1057insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001024024.2:c.*110_*111insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001024070.2:c.*106_*107insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001024071.2:c.*78_*79insAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]