ClinVar

NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)

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: 70598463 (on Assembly GRCh38)
• Chr9: 73213379 (on Assembly GRCh37)

Preferred name:

NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)

HGVS:

• NC_000009.12:g.70598463C>T
• NG_047197.1:g.853462G>A
• NM_001007471.4:c.2968G>A
• NM_001366141.2:c.2974G>A
• NM_001366142.2:c.3010G>A
• NM_001366143.2:c.2974G>A
• NM_001366145.2:c.3004G>AMANE SELECT
• NM_001366146.2:c.3004G>A
• NM_001366147.2:c.3079G>A
• NM_001366148.2:c.3049G>A
• NM_001366149.2:c.2974G>A
• NM_001366150.2:c.2938G>A
• NM_001366151.2:c.2968G>A
• NM_001366152.2:c.3079G>A
• NM_001366154.2:c.2545G>A
• NM_020952.6:c.2509G>A
• NM_024971.7:c.2545G>A
• NM_206944.5:c.2479G>A
• NM_206945.5:c.2515G>A
• NM_206946.5:c.2584G>A
• NM_206947.5:c.2554G>A
• NP_001007472.2:p.Val990Met
• NP_001353070.1:p.Val992Met
• NP_001353071.1:p.Val1004Met
• NP_001353072.1:p.Val992Met
• NP_001353074.1:p.Val1002Met
• NP_001353075.1:p.Val1002Met
• NP_001353076.1:p.Val1027Met
• NP_001353077.1:p.Val1017Met
• NP_001353078.1:p.Val992Met
• NP_001353079.1:p.Val980Met
• NP_001353080.1:p.Val990Met
• NP_001353081.1:p.Val1027Met
• NP_001353083.1:p.Val849Met
• NP_066003.3:p.Val837Met
• NP_079247.5:p.Val849Met
• NP_996827.3:p.Val827Met
• NP_996828.3:p.Val839Met
• NP_996829.3:p.Val862Met
• NP_996830.3:p.Val852Met
• NC_000009.11:g.73213379C>T
• NM_001007471.2:c.2968G>A
• NM_001366145.2(TRPM3):c.3004G>AMANE SELECT
• NM_001366145.2:c.3004G>A
• NM_020952.4:c.2509G>A
• NM_020952.5:c.2509G>A
• p.Val1002Met

This HGVS expression did not pass validation

Protein change:

V1002M; VAL837MET

Links:

OMIM: 608961.0001; dbSNP: rs1564493599

NCBI 1000 Genomes Browser:

rs1564493599

Molecular consequence:

• NM_001007471.4:c.2968G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366141.2:c.2974G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366142.2:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366143.2:c.2974G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366145.2:c.3004G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366146.2:c.3004G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366147.2:c.3079G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366148.2:c.3049G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366149.2:c.2974G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366150.2:c.2938G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366151.2:c.2968G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366152.2:c.3079G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366154.2:c.2545G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020952.6:c.2509G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024971.7:c.2545G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_206944.5:c.2479G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_206945.5:c.2515G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_206946.5:c.2584G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_206947.5:c.2554G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

Observations:

6