ClinVar

NM_017636.4(TRPM4):c.3337C>G (p.Leu1113Val)

Gene:

TRPM4:transient receptor potential cation channel subfamily M member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 49210718 (on Assembly GRCh38)
• Chr19: 49713975 (on Assembly GRCh37)

Preferred name:

NM_017636.4(TRPM4):c.3337C>G (p.Leu1113Val)

HGVS:

• NC_000019.10:g.49210718C>G
• NG_027551.2:g.57960C>G
• NM_001195227.2:c.2902C>G
• NM_001321281.2:c.2992C>G
• NM_001321282.2:c.1729C>G
• NM_001321283.2:c.2815C>G
• NM_001321285.2:c.2275C>G
• NM_017636.4:c.3337C>GMANE SELECT
• NP_001182156.1:p.Leu968Val
• NP_001308210.1:p.Leu998Val
• NP_001308211.1:p.Leu577Val
• NP_001308212.1:p.Leu939Val
• NP_001308214.1:p.Leu759Val
• NP_060106.2:p.Leu1113Val
• NC_000019.9:g.49713975C>G
• NG_027551.1:g.57960C>G
• NM_017636.3:c.3337C>G

This HGVS expression did not pass validation

Protein change:

L1113V

Links:

dbSNP: rs780954126

NCBI 1000 Genomes Browser:

rs780954126

Molecular consequence:

• NM_001195227.2:c.2902C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321281.2:c.2992C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321282.2:c.1729C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321283.2:c.2815C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321285.2:c.2275C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_017636.4:c.3337C>G - missense variant - [Sequence Ontology: SO:0001583]