ClinVar

NM_000360.4(TH):c.585G>A (p.Ser195=)

Gene:

TH:tyrosine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2167925 (on Assembly GRCh38)
• Chr11: 2189155 (on Assembly GRCh37)

Preferred name:

NM_000360.4(TH):c.585G>A (p.Ser195=)

HGVS:

• NC_000011.10:g.2167925C>T
• NG_008128.1:g.8881G>A
• NM_000360.4:c.585G>AMANE SELECT
• NM_199292.3:c.678G>A
• NM_199293.3:c.666G>A
• NP_000351.2:p.Ser195=
• NP_954986.2:p.Ser226=
• NP_954987.2:p.Ser222=
• NC_000011.9:g.2189155C>T
• NM_199292.2:c.678G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs376615793

NCBI 1000 Genomes Browser:

rs376615793

Molecular consequence:

• NM_000360.4:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_199292.3:c.678G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_199293.3:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]