ClinVar

NM_000460.4(THPO):c.469C>T (p.Arg157Ter)

Gene:

THPO:thrombopoietin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 184373106 (on Assembly GRCh38)
• Chr3: 184090894 (on Assembly GRCh37)

Preferred name:

NM_000460.4(THPO):c.469C>T (p.Arg157Ter)

HGVS:

• NC_000003.12:g.184373106G>A
• NG_012136.1:g.10039C>T
• NM_000460.4:c.469C>TMANE SELECT
• NM_001177597.2:c.457C>T
• NM_001177598.2:c.452C>T
• NM_001289997.1:c.469C>T
• NM_001289998.1:c.469C>T
• NM_001290003.1:c.889C>T
• NM_001290022.1:c.457C>T
• NM_001290026.1:c.452C>T
• NM_001290027.1:c.469C>T
• NM_001290028.1:c.469C>T
• NP_000451.1:p.Arg157Ter
• NP_001171068.1:p.Arg153Ter
• NP_001171069.1:p.Pro151Leu
• NP_001276926.1:p.Arg157Ter
• NP_001276927.1:p.Arg157Ter
• NP_001276932.1:p.Arg297Ter
• NP_001276951.1:p.Arg153Ter
• NP_001276955.1:p.Pro151Leu
• NP_001276956.1:p.Arg157Ter
• NP_001276957.1:p.Arg157Ter
• LRG_580t1:c.469C>T
• LRG_580:g.10039C>T
• LRG_580p1:p.Arg157Ter
• NC_000003.11:g.184090894G>A

This HGVS expression did not pass validation

Protein change:

P151L; ARG157TER

Links:

OMIM: 600044.0010; dbSNP: rs1412486198

NCBI 1000 Genomes Browser:

rs1412486198

Molecular consequence:

• NM_001177598.2:c.452C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290026.1:c.452C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_000460.4:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001177597.2:c.457C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001289997.1:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001289998.1:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290003.1:c.889C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290022.1:c.457C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290027.1:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290028.1:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

4