ClinVar

NM_000360.4(TH):c.748G>C (p.Glu250Gln)

Gene:

TH:tyrosine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2166980 (on Assembly GRCh38)
• Chr11: 2188210 (on Assembly GRCh37)

Preferred name:

NM_000360.4(TH):c.748G>C (p.Glu250Gln)

HGVS:

• NC_000011.10:g.2166980C>G
• NG_008128.1:g.9826G>C
• NM_000360.4:c.748G>CMANE SELECT
• NM_199292.3:c.841G>C
• NM_199293.3:c.829G>C
• NP_000351.2:p.Glu250Gln
• NP_954986.2:p.Glu281Gln
• NP_954987.2:p.Glu277Gln
• NC_000011.9:g.2188210C>G

This HGVS expression did not pass validation

Protein change:

E250Q

Links:

dbSNP: rs794727937

NCBI 1000 Genomes Browser:

rs794727937

Molecular consequence:

• NM_000360.4:c.748G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_199292.3:c.841G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_199293.3:c.829G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1