ClinVar

NM_000360.4(TH):c.787G>C (p.Gly263Arg)

Gene:

TH:tyrosine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2166941 (on Assembly GRCh38)
• Chr11: 2188171 (on Assembly GRCh37)

Preferred name:

NM_000360.4(TH):c.787G>C (p.Gly263Arg)

HGVS:

• NC_000011.10:g.2166941C>G
• NG_008128.1:g.9865G>C
• NM_000360.4:c.787G>CMANE SELECT
• NM_199292.3:c.880G>C
• NM_199293.3:c.868G>C
• NP_000351.2:p.Gly263Arg
• NP_954986.2:p.Gly294Arg
• NP_954987.2:p.Gly290Arg
• NC_000011.9:g.2188171C>G
• NM_199292.2:c.880G>C

This HGVS expression did not pass validation

Protein change:

G263R

Links:

dbSNP: rs755536257

NCBI 1000 Genomes Browser:

rs755536257

Molecular consequence:

• NM_000360.4:c.787G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_199292.3:c.880G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_199293.3:c.868G>C - missense variant - [Sequence Ontology: SO:0001583]