ClinVar

NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)

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: 109784385 (on Assembly GRCh38)
• Chr12: 110222190 (on Assembly GRCh37)

Preferred name:

NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)

Other names:

E797K

HGVS:

• NC_000012.12:g.109784385C>T
• NG_017090.1:g.54023G>A
• NM_001177428.1:c.2248G>A
• NM_001177431.1:c.2287G>A
• NM_001177433.1:c.2068G>A
• NM_021625.5:c.2389G>AMANE SELECT
• NM_147204.2:c.2209G>A
• NP_001170899.1:p.Glu750Lys
• NP_001170902.1:p.Glu763Lys
• NP_001170904.1:p.Glu690Lys
• NP_067638.3:p.Glu797Lys
• NP_067638.3:p.Glu797Lys
• NP_671737.1:p.Glu737Lys
• LRG_372t1:c.2389G>A
• LRG_372:g.54023G>A
• LRG_372p1:p.Glu797Lys
• NC_000012.11:g.110222190C>T
• NM_021625.4:c.2389G>A
• NM_021625.4:c.[2389G>A]
• Q9HBA0:p.Glu797Lys

This HGVS expression did not pass validation

Protein change:

E690K; GLU797LYS

Links:

UniProtKB: Q9HBA0#VAR_064537; OMIM: 605427.0018; dbSNP: rs267607149

NCBI 1000 Genomes Browser:

rs267607149

Molecular consequence:

• NM_001177428.1:c.2248G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177431.1:c.2287G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177433.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021625.5:c.2389G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_147204.2:c.2209G>A - missense variant - [Sequence Ontology: SO:0001583]