ClinVar

NM_000460.4(THPO):c.444C>A (p.Ile148=)

Gene:

THPO:thrombopoietin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 184373131 (on Assembly GRCh38)
• Chr3: 184090919 (on Assembly GRCh37)

Preferred name:

NM_000460.4(THPO):c.444C>A (p.Ile148=)

HGVS:

• NC_000003.12:g.184373131G>T
• NG_012136.1:g.10014C>A
• NM_000460.4:c.444C>AMANE SELECT
• NM_001177597.2:c.432C>A
• NM_001177598.2:c.427C>A
• NM_001289997.1:c.444C>A
• NM_001289998.1:c.444C>A
• NM_001290003.1:c.864C>A
• NM_001290022.1:c.432C>A
• NM_001290026.1:c.427C>A
• NM_001290027.1:c.444C>A
• NM_001290028.1:c.444C>A
• NP_000451.1:p.Ile148=
• NP_001171068.1:p.Ile144=
• NP_001171069.1:p.Leu143Ile
• NP_001276926.1:p.Ile148=
• NP_001276927.1:p.Ile148=
• NP_001276932.1:p.Ile288=
• NP_001276951.1:p.Ile144=
• NP_001276955.1:p.Leu143Ile
• NP_001276956.1:p.Ile148=
• NP_001276957.1:p.Ile148=
• LRG_580t1:c.444C>A
• LRG_580:g.10014C>A
• LRG_580p1:p.Ile148=
• NC_000003.11:g.184090919G>T

This HGVS expression did not pass validation

Protein change:

L143I

Molecular consequence:

• NM_001177598.2:c.427C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290026.1:c.427C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_000460.4:c.444C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001177597.2:c.432C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289997.1:c.444C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289998.1:c.444C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290003.1:c.864C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290022.1:c.432C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290027.1:c.444C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290028.1:c.444C>A - synonymous variant - [Sequence Ontology: SO:0001819]