ClinVar

NM_001032283.3(TMPO):c.565+2487C>T

Gene:

TMPO:thymopoietin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.1

Genomic location:

• Chr12: 98534325 (on Assembly GRCh38)
• Chr12: 98928103 (on Assembly GRCh37)

Preferred name:

NM_001032283.3(TMPO):c.565+2487C>T

HGVS:

• NC_000012.12:g.98534325C>T
• NG_021393.1:g.23753C>T
• NM_001032283.3:c.565+2487C>TMANE SELECT
• NM_001032284.3:c.565+2487C>T
• NM_001307975.2:c.565+2487C>T
• NM_003276.2:c.2068C>T
• NP_003267.1:p.Arg690Cys
• LRG_443t2:c.2068C>T
• LRG_443:g.23753C>T
• LRG_443p2:p.Arg690Cys
• NC_000012.11:g.98928103C>T
• P42166:p.Arg690Cys
• c.2068C>T

This HGVS expression did not pass validation

Protein change:

R690C; ARG690CYS

Links:

UniProtKB: P42166#VAR_049778; OMIM: 188380.0001; dbSNP: rs17028450

NCBI 1000 Genomes Browser:

rs17028450

Molecular consequence:

• NM_001032283.3:c.565+2487C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001032284.3:c.565+2487C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001307975.2:c.565+2487C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003276.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]