ClinVar

NM_033337.3(CAV3):c.*853T>C

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: 8746720 (on Assembly GRCh38)
• Chr3: 8788406 (on Assembly GRCh37)

Preferred name:

NM_033337.3(CAV3):c.*853T>C

HGVS:

• NC_000003.12:g.8746720T>C
• NG_008797.2:g.17911T>C
• NM_001234.5:c.*757T>C
• NM_033337.3:c.*853T>CMANE SELECT
• LRG_329t1:c.*853T>C
• LRG_329:g.17911T>C
• NC_000003.11:g.8788406T>C
• NM_033337.2:c.*853T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs886058920

NCBI 1000 Genomes Browser:

rs886058920

Molecular consequence:

• NM_001234.5:c.*757T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_033337.3:c.*853T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]