ClinVar

NM_021625.5(TRPV4):c.957G>T (p.Ser319=)

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: 109798809 (on Assembly GRCh38)
• Chr12: 110236614 (on Assembly GRCh37)

Preferred name:

NM_021625.5(TRPV4):c.957G>T (p.Ser319=)

HGVS:

• NC_000012.12:g.109798809C>A
• NG_017090.1:g.39599G>T
• NM_001177428.1:c.816G>T
• NM_001177431.1:c.855G>T
• NM_001177433.1:c.816G>T
• NM_021625.5:c.957G>TMANE SELECT
• NM_147204.2:c.957G>T
• NP_001170899.1:p.Ser272=
• NP_001170902.1:p.Ser285=
• NP_001170904.1:p.Ser272=
• NP_067638.3:p.Ser319=
• NP_067638.3:p.Ser319=
• NP_671737.1:p.Ser319=
• LRG_372t1:c.957G>T
• LRG_372:g.39599G>T
• LRG_372p1:p.Ser319=
• NC_000012.11:g.110236614C>A
• NM_021625.4:c.957G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001177428.1:c.816G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001177431.1:c.855G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001177433.1:c.816G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021625.5:c.957G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_147204.2:c.957G>T - synonymous variant - [Sequence Ontology: SO:0001819]