ClinVar

NM_000360.4(TH):c.284C>G (p.Ala95Gly)

Gene:

TH:tyrosine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2169678 (on Assembly GRCh38)
• Chr11: 2190908 (on Assembly GRCh37)

Preferred name:

NM_000360.4(TH):c.284C>G (p.Ala95Gly)

Other names:

p.Ala126Gly

HGVS:

• NC_000011.10:g.2169678G>C
• NG_008128.1:g.7128C>G
• NM_000360.4:c.284C>GMANE SELECT
• NM_199292.3:c.377C>G
• NM_199293.3:c.365C>G
• NP_000351.2:p.Ala95Gly
• NP_954986.2:p.Ala126Gly
• NP_954987.2:p.Ala122Gly
• NC_000011.9:g.2190908G>C
• NM_199292.2:c.377C>G

This HGVS expression did not pass validation

Protein change:

A122G

Links:

dbSNP: rs769126179

NCBI 1000 Genomes Browser:

rs769126179

Molecular consequence:

• NM_000360.4:c.284C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_199292.3:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_199293.3:c.365C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1