ClinVar

NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)

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: 109783719 (on Assembly GRCh38)
• Chr12: 110221524 (on Assembly GRCh37)

Preferred name:

NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)

Other names:

p.E840K:GAG>AAG

HGVS:

• NC_000012.12:g.109783719C>T
• NG_017090.1:g.54689G>A
• NM_001177428.1:c.2377G>A
• NM_001177431.1:c.2416G>A
• NM_001177433.1:c.2197G>A
• NM_021625.5:c.2518G>AMANE SELECT
• NM_147204.2:c.2338G>A
• NP_001170899.1:p.Glu793Lys
• NP_001170902.1:p.Glu806Lys
• NP_001170904.1:p.Glu733Lys
• NP_067638.3:p.Glu840Lys
• NP_067638.3:p.Glu840Lys
• NP_671737.1:p.Glu780Lys
• LRG_372t1:c.2518G>A
• LRG_372:g.54689G>A
• LRG_372p1:p.Glu840Lys
• NC_000012.11:g.110221524C>T
• NM_021625.4:c.2518G>A

This HGVS expression did not pass validation

Protein change:

E733K

Links:

dbSNP: rs55728855

NCBI 1000 Genomes Browser:

rs55728855

Molecular consequence:

• NM_001177428.1:c.2377G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177431.1:c.2416G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177433.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021625.5:c.2518G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_147204.2:c.2338G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

27