ClinVar

NM_021625.5(TRPV4):c.806G>A (p.Arg269His)

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: 109800665 (on Assembly GRCh38)
• Chr12: 110238470 (on Assembly GRCh37)

Preferred name:

NM_021625.5(TRPV4):c.806G>A (p.Arg269His)

Other names:

NM_021625.5(TRPV4):c.806G>A

HGVS:

• NC_000012.12:g.109800665C>T
• NG_017090.1:g.37743G>A
• NM_001177428.1:c.713-1753G>A
• NM_001177431.1:c.704G>A
• NM_001177433.1:c.713-1753G>A
• NM_021625.5:c.806G>AMANE SELECT
• NM_147204.2:c.806G>A
• NP_001170902.1:p.Arg235His
• NP_067638.3:p.Arg269His
• NP_067638.3:p.Arg269His
• NP_671737.1:p.Arg269His
• LRG_372t1:c.806G>A
• LRG_372:g.37743G>A
• LRG_372p1:p.Arg269His
• NC_000012.11:g.110238470C>T
• NM_021625.3:c.806G>A
• NM_021625.4:c.806G>A
• Q9HBA0:p.Arg269His

This HGVS expression did not pass validation

Protein change:

R235H; ARG269HIS

Links:

UniProtKB: Q9HBA0#VAR_063529; OMIM: 605427.0009; dbSNP: rs267607144

NCBI 1000 Genomes Browser:

rs267607144

Molecular consequence:

• NM_001177428.1:c.713-1753G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177433.1:c.713-1753G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177431.1:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021625.5:c.806G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_147204.2:c.806G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1