ClinVar

NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)

Gene:

TRPV4:transient receptor potential cation channel subfamily V member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 109794442 (on Assembly GRCh38)
• Chr12: 110232247 (on Assembly GRCh37)

Preferred name:

NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)

HGVS:

• NC_000012.12:g.109794442G>A
• NG_017090.1:g.43966C>T
• NM_001177428.1:c.1237C>T
• NM_001177431.1:c.1276C>T
• NM_001177433.1:c.1057C>T
• NM_021625.5:c.1378C>TMANE SELECT
• NM_147204.2:c.1198C>T
• NP_001170899.1:p.Arg413Trp
• NP_001170902.1:p.Arg426Trp
• NP_001170904.1:p.Arg353Trp
• NP_067638.3:p.Arg460Trp
• NP_067638.3:p.Arg460Trp
• NP_671737.1:p.Arg400Trp
• LRG_372t1:c.1378C>T
• LRG_372:g.43966C>T
• LRG_372p1:p.Arg460Trp
• NC_000012.11:g.110232247G>A
• NM_021625.4:c.1378C>T
• p.Arg460Trp

This HGVS expression did not pass validation

Protein change:

R353W

Links:

dbSNP: rs34227547

NCBI 1000 Genomes Browser:

rs34227547

Molecular consequence:

• NM_001177428.1:c.1237C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177431.1:c.1276C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177433.1:c.1057C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021625.5:c.1378C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_147204.2:c.1198C>T - missense variant - [Sequence Ontology: SO:0001583]