ClinVar

NM_001206744.2(TPO):c.1598-212C>A

Gene:

TPO:thyroid peroxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.3

Genomic location:

• Chr2: 1487609 (on Assembly GRCh38)
• Chr2: 1491381 (on Assembly GRCh37)

Preferred name:

NM_001206744.2(TPO):c.1598-212C>A

HGVS:

• NC_000002.12:g.1487609C>A
• NG_011581.1:g.79147C>A
• NM_000547.6:c.1598-212C>A
• NM_001206744.2:c.1598-212C>AMANE SELECT
• NM_001206745.2:c.1597+2755C>A
• NM_175719.4:c.1597+2755C>A
• NM_175721.3:c.1598-212C>A
• NM_175722.3:c.1079-212C>A
• NC_000002.11:g.1491381C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs6714887

NCBI 1000 Genomes Browser:

rs6714887

Molecular consequence:

• NM_000547.6:c.1598-212C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001206744.2:c.1598-212C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001206745.2:c.1597+2755C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_175719.4:c.1597+2755C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_175721.3:c.1598-212C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_175722.3:c.1079-212C>A - intron variant - [Sequence Ontology: SO:0001627]