ClinVar

NM_033337.3(CAV3):c.253G>A (p.Ala85Thr)

Genes:

CAV3:caveolin 3 [Gene - OMIM - HGNC]
OXTR:oxytocin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 8745664 (on Assembly GRCh38)
• Chr3: 8787350 (on Assembly GRCh37)

Preferred name:

NM_033337.3(CAV3):c.253G>A (p.Ala85Thr)

HGVS:

• NC_000003.12:g.8745664G>A
• NG_008797.2:g.16855G>A
• NM_001234.5:c.253G>A
• NM_033337.3:c.253G>AMANE SELECT
• NP_001225.1:p.Ala85Thr
• NP_203123.1:p.Ala85Thr
• NP_203123.1:p.Ala85Thr
• LRG_329t1:c.253G>A
• LRG_329:g.16855G>A
• LRG_329p1:p.Ala85Thr
• NC_000003.11:g.8787350G>A
• NM_033337.2:c.253G>A
• P56539:p.Ala85Thr
• p.(Ala85Thr)

This HGVS expression did not pass validation

Protein change:

A85T; ALA85THR

Links:

Leiden Muscular Dystrophy (CAV3): CAV3_00055; UniProtKB: P56539#VAR_043697; OMIM: 601253.0019; dbSNP: rs104893715

NCBI 1000 Genomes Browser:

rs104893715

Molecular consequence:

• NM_001234.5:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033337.3:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]