ClinVar

NM_001366145.2(TRPM3):c.1976A>G (p.Lys659Arg)

Gene:

TRPM3:transient receptor potential cation channel subfamily M member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.12

Genomic location:

• Chr9: 70620229 (on Assembly GRCh38)
• Chr9: 73235145 (on Assembly GRCh37)

Preferred name:

NM_001366145.2(TRPM3):c.1976A>G (p.Lys659Arg)

HGVS:

• NC_000009.12:g.70620229T>C
• NG_047197.1:g.831696A>G
• NM_001007471.4:c.1940A>G
• NM_001366141.2:c.1946A>G
• NM_001366142.2:c.1982A>G
• NM_001366143.2:c.1946A>G
• NM_001366145.2:c.1976A>GMANE SELECT
• NM_001366146.2:c.1976A>G
• NM_001366147.2:c.2051A>G
• NM_001366148.2:c.2021A>G
• NM_001366149.2:c.1946A>G
• NM_001366150.2:c.1910A>G
• NM_001366151.2:c.1940A>G
• NM_001366152.2:c.2051A>G
• NM_001366154.2:c.1517A>G
• NM_020952.6:c.1481A>G
• NM_024971.7:c.1517A>G
• NM_206944.5:c.1451A>G
• NM_206945.5:c.1487A>G
• NM_206946.5:c.1556A>G
• NM_206947.5:c.1526A>G
• NP_001007472.2:p.Lys647Arg
• NP_001353070.1:p.Lys649Arg
• NP_001353071.1:p.Lys661Arg
• NP_001353072.1:p.Lys649Arg
• NP_001353074.1:p.Lys659Arg
• NP_001353075.1:p.Lys659Arg
• NP_001353076.1:p.Lys684Arg
• NP_001353077.1:p.Lys674Arg
• NP_001353078.1:p.Lys649Arg
• NP_001353079.1:p.Lys637Arg
• NP_001353080.1:p.Lys647Arg
• NP_001353081.1:p.Lys684Arg
• NP_001353083.1:p.Lys506Arg
• NP_066003.3:p.Lys494Arg
• NP_079247.5:p.Lys506Arg
• NP_996827.3:p.Lys484Arg
• NP_996828.3:p.Lys496Arg
• NP_996829.3:p.Lys519Arg
• NP_996830.3:p.Lys509Arg
• NC_000009.11:g.73235145T>C
• NM_001366145.1:c.1976A>G

This HGVS expression did not pass validation

Protein change:

K484R

Links:

dbSNP: rs2133197810

NCBI 1000 Genomes Browser:

rs2133197810

Molecular consequence:

• NM_001007471.4:c.1940A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366141.2:c.1946A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366142.2:c.1982A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366143.2:c.1946A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366145.2:c.1976A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366146.2:c.1976A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366147.2:c.2051A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366148.2:c.2021A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366149.2:c.1946A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366150.2:c.1910A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366151.2:c.1940A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366152.2:c.2051A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366154.2:c.1517A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_020952.6:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024971.7:c.1517A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_206944.5:c.1451A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_206945.5:c.1487A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_206946.5:c.1556A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_206947.5:c.1526A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1