ClinVar

NM_000460.4(THPO):c.852G>A (p.Leu284=)

Gene:

THPO:thrombopoietin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 184372723 (on Assembly GRCh38)
• Chr3: 184090511 (on Assembly GRCh37)

Preferred name:

NM_000460.4(THPO):c.852G>A (p.Leu284=)

HGVS:

• NC_000003.12:g.184372723C>T
• NG_012136.1:g.10422G>A
• NM_000460.4:c.852G>AMANE SELECT
• NM_001177597.2:c.840G>A
• NM_001177598.2:c.835G>A
• NM_001289997.1:c.736G>A
• NM_001289998.1:c.852G>A
• NM_001290003.1:c.1272G>A
• NM_001290022.1:c.840G>A
• NM_001290026.1:c.835G>A
• NM_001290027.1:c.736G>A
• NM_001290028.1:c.852G>A
• NP_000451.1:p.Leu284=
• NP_001171068.1:p.Leu280=
• NP_001171069.1:p.Ala279Thr
• NP_001276926.1:p.Ala246Thr
• NP_001276927.1:p.Leu284=
• NP_001276932.1:p.Leu424=
• NP_001276951.1:p.Leu280=
• NP_001276955.1:p.Ala279Thr
• NP_001276956.1:p.Ala246Thr
• NP_001276957.1:p.Leu284=
• LRG_580t1:c.852G>A
• LRG_580:g.10422G>A
• LRG_580p1:p.Leu284=
• NC_000003.11:g.184090511C>T
• NC_000003.11:g.184090511C>T
• NM_000460.2:c.852G>A

This HGVS expression did not pass validation

Protein change:

A246T

Links:

dbSNP: rs150122652

NCBI 1000 Genomes Browser:

rs150122652

Molecular consequence:

• NM_001177598.2:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289997.1:c.736G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290026.1:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290027.1:c.736G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_000460.4:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001177597.2:c.840G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289998.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290003.1:c.1272G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290022.1:c.840G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290028.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]