ClinVar

NM_001206744.2(TPO):c.1062G>A (p.Ala354=)

Gene:

TPO:thyroid peroxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.3

Genomic location:

• Chr2: 1477328 (on Assembly GRCh38)
• Chr2: 1481100 (on Assembly GRCh37)

Preferred name:

NM_001206744.2(TPO):c.1062G>A (p.Ala354=)

HGVS:

• NC_000002.12:g.1477328G>A
• NG_011581.1:g.68866G>A
• NG_011581.2:g.108283G>A
• NM_000547.6:c.1062G>A
• NM_001206744.2:c.1062G>AMANE SELECT
• NM_001206745.2:c.1062G>A
• NM_175719.4:c.1062G>A
• NM_175721.3:c.1062G>A
• NM_175722.3:c.820-7268G>A
• NP_000538.3:p.Ala354=
• NP_001193673.1:p.Ala354=
• NP_001193674.1:p.Ala354=
• NP_783650.1:p.Ala354=
• NP_783652.1:p.Ala354=
• NC_000002.11:g.1481100G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_175722.3:c.820-7268G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000547.6:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206744.2:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206745.2:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175719.4:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175721.3:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]