ClinVar

NM_001032283.3(TMPO):c.565+2182T>C

Gene:

TMPO:thymopoietin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.1

Genomic location:

• Chr12: 98534020 (on Assembly GRCh38)
• Chr12: 98927798 (on Assembly GRCh37)

Preferred name:

NM_001032283.3(TMPO):c.565+2182T>C

HGVS:

• NC_000012.12:g.98534020T>C
• NG_021393.1:g.23448T>C
• NM_001032283.3:c.565+2182T>CMANE SELECT
• NM_001032284.3:c.565+2182T>C
• NM_001307975.2:c.565+2182T>C
• NM_003276.2:c.1763T>C
• NP_003267.1:p.Phe588Ser
• LRG_443t2:c.1763T>C
• LRG_443:g.23448T>C
• LRG_443p2:p.Phe588Ser
• NC_000012.11:g.98927798T>C

This HGVS expression did not pass validation

Protein change:

F588S

Links:

dbSNP: rs571417296

NCBI 1000 Genomes Browser:

rs571417296

Molecular consequence:

• NM_001032283.3:c.565+2182T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001032284.3:c.565+2182T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001307975.2:c.565+2182T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_003276.2:c.1763T>C - missense variant - [Sequence Ontology: SO:0001583]