ClinVar

NM_033337.3(CAV3):c.276C>T (p.Phe92=)

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: 8745687 (on Assembly GRCh38)
• Chr3: 8787373 (on Assembly GRCh37)

Preferred name:

NM_033337.3(CAV3):c.276C>T (p.Phe92=)

HGVS:

• NC_000003.12:g.8745687C>T
• NG_008797.2:g.16878C>T
• NM_001234.5:c.276C>T
• NM_033337.3:c.276C>TMANE SELECT
• NP_001225.1:p.Phe92=
• NP_203123.1:p.Phe92=
• NP_203123.1:p.Phe92=
• LRG_329t1:c.276C>T
• LRG_329:g.16878C>T
• LRG_329p1:p.Phe92=
• NC_000003.11:g.8787373C>T
• NM_001234.4:c.276C>T
• NM_033337.2:c.276C>T
• c.276C>T
• p.Phe92Phe

This HGVS expression did not pass validation

Links:

dbSNP: rs72546669

NCBI 1000 Genomes Browser:

rs72546669

Molecular consequence:

• NM_001234.5:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033337.3:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

8