ClinVar

NM_033337.3(CAV3):c.302G>T (p.Trp101Leu)

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: 8745713 (on Assembly GRCh38)
• Chr3: 8787399 (on Assembly GRCh37)

Preferred name:

NM_033337.3(CAV3):c.302G>T (p.Trp101Leu)

HGVS:

• NC_000003.12:g.8745713G>T
• NG_008797.2:g.16904G>T
• NM_001234.5:c.302G>T
• NM_033337.3:c.302G>TMANE SELECT
• NP_001225.1:p.Trp101Leu
• NP_203123.1:p.Trp101Leu
• LRG_329:g.16904G>T
• NC_000003.11:g.8787399G>T
• NM_001234.4:c.302G>T

This HGVS expression did not pass validation

Protein change:

W101L

Links:

dbSNP: rs1575477812

NCBI 1000 Genomes Browser:

rs1575477812

Molecular consequence:

• NM_001234.5:c.302G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033337.3:c.302G>T - missense variant - [Sequence Ontology: SO:0001583]