ClinVar

NM_033337.3(CAV3):c.40G>C (p.Val14Leu)

Gene:

CAV3:caveolin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 8733916 (on Assembly GRCh38)
• Chr3: 8775602 (on Assembly GRCh37)

Preferred name:

NM_033337.3(CAV3):c.40G>C (p.Val14Leu)

HGVS:

• NC_000003.12:g.8733916G>C
• NG_008797.2:g.5107G>C
• NM_001234.5:c.40G>C
• NM_033337.3:c.40G>CMANE SELECT
• NP_001225.1:p.Val14Leu
• NP_203123.1:p.Val14Leu
• NP_203123.1:p.Val14Leu
• LRG_329t1:c.40G>C
• LRG_329:g.5107G>C
• LRG_329p1:p.Val14Leu
• NC_000003.11:g.8775602G>C
• NM_033337.2:c.40G>C
• P56539:p.Val14Leu
• p.(Val14Leu)

This HGVS expression did not pass validation

Protein change:

V14L; VAL14LEU

Links:

Leiden Muscular Dystrophy (CAV3): CAV3_00058; UniProtKB: P56539#VAR_043694; OMIM: 601253.0020; dbSNP: rs121909281

NCBI 1000 Genomes Browser:

rs121909281

Molecular consequence:

• NM_001234.5:c.40G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033337.3:c.40G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]