ClinVar

NM_033337.3(CAV3):c.27C>T (p.Leu9=)

Gene:

CAV3:caveolin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 8733903 (on Assembly GRCh38)
• Chr3: 8775589 (on Assembly GRCh37)

Preferred name:

NM_033337.3(CAV3):c.27C>T (p.Leu9=)

HGVS:

• NC_000003.12:g.8733903C>T
• NG_008797.2:g.5094C>T
• NM_001234.5:c.27C>T
• NM_033337.3:c.27C>TMANE SELECT
• NP_001225.1:p.Leu9=
• NP_203123.1:p.Leu9=
• NP_203123.1:p.Leu9=
• LRG_329t1:c.27C>T
• LRG_329:g.5094C>T
• LRG_329p1:p.Leu9=
• NC_000003.11:g.8775589C>T
• NM_033337.2:c.27C>T
• NP_203123.1:p.(=)
• c.27C>T

This HGVS expression did not pass validation

Links:

Leiden Muscular Dystrophy (CAV3): CAV3_00024; dbSNP: rs1974763

NCBI 1000 Genomes Browser:

rs1974763

Molecular consequence:

• NM_001234.5:c.27C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033337.3:c.27C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

no known functional consequence