ClinVar

NM_021625.5(TRPV4):c.1825-15C>T

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: 109792444 (on Assembly GRCh38)
• Chr12: 110230249 (on Assembly GRCh37)

Preferred name:

NM_021625.5(TRPV4):c.1825-15C>T

HGVS:

• NC_000012.12:g.109792444G>A
• NG_017090.1:g.45964C>T
• NM_001177428.1:c.1684-15C>T
• NM_001177431.1:c.1723-15C>T
• NM_001177433.1:c.1504-15C>T
• NM_021625.5:c.1825-15C>TMANE SELECT
• NM_147204.2:c.1645-15C>T
• LRG_372t1:c.1825-15C>T
• LRG_372:g.45964C>T
• NC_000012.11:g.110230249G>A
• NM_021625.4:c.1825-15C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200602134

NCBI 1000 Genomes Browser:

rs200602134

Molecular consequence:

• NM_001177428.1:c.1684-15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177431.1:c.1723-15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177433.1:c.1504-15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_021625.5:c.1825-15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_147204.2:c.1645-15C>T - intron variant - [Sequence Ontology: SO:0001627]