ClinVar

NM_033337.3(CAV3):c.221G>A (p.Arg74His)

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: 8745632 (on Assembly GRCh38)
• Chr3: 8787318 (on Assembly GRCh37)

Preferred name:

NM_033337.3(CAV3):c.221G>A (p.Arg74His)

HGVS:

• NC_000003.12:g.8745632G>A
• NG_008797.2:g.16823G>A
• NM_001234.5:c.221G>A
• NM_033337.3:c.221G>AMANE SELECT
• NP_001225.1:p.Arg74His
• NP_203123.1:p.Arg74His
• NP_203123.1:p.Arg74His
• LRG_329t1:c.221G>A
• LRG_329:g.16823G>A
• LRG_329p1:p.Arg74His
• NC_000003.11:g.8787318G>A
• NM_001234.4:c.221G>A
• NM_033337.2:c.221G>A

This HGVS expression did not pass validation

Protein change:

R74H

Links:

dbSNP: rs201893621

NCBI 1000 Genomes Browser:

rs201893621

Molecular consequence:

• NM_001234.5:c.221G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033337.3:c.221G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1