ClinVar

NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)

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: 109786798 (on Assembly GRCh38)
• Chr12: 110224603 (on Assembly GRCh37)

Preferred name:

NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)

HGVS:

• NC_000012.12:g.109786798C>T
• NG_017090.1:g.51610G>A
• NM_001177428.1:c.2107G>A
• NM_001177431.1:c.2146G>A
• NM_001177433.1:c.1927G>A
• NM_021625.5:c.2248G>AMANE SELECT
• NM_147204.2:c.2068G>A
• NP_001170899.1:p.Val703Ile
• NP_001170902.1:p.Val716Ile
• NP_001170904.1:p.Val643Ile
• NP_067638.3:p.Val750Ile
• NP_067638.3:p.Val750Ile
• NP_671737.1:p.Val690Ile
• LRG_372t1:c.2248G>A
• LRG_372:g.51610G>A
• LRG_372p1:p.Val750Ile
• NC_000012.11:g.110224603C>T
• NM_021625.4:c.2248G>A

This HGVS expression did not pass validation

Protein change:

V643I

Links:

dbSNP: rs148171058

NCBI 1000 Genomes Browser:

rs148171058

Molecular consequence:

• NM_001177428.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177431.1:c.2146G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177433.1:c.1927G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021625.5:c.2248G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_147204.2:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1