ClinVar

NM_033337.3(CAV3):c.306G>A (p.Ala102=)

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: 8745717 (on Assembly GRCh38)
• Chr3: 8787403 (on Assembly GRCh37)

Preferred name:

NM_033337.3(CAV3):c.306G>A (p.Ala102=)

HGVS:

• NC_000003.12:g.8745717G>A
• NG_008797.2:g.16908G>A
• NM_001234.5:c.306G>A
• NM_033337.3:c.306G>AMANE SELECT
• NP_001225.1:p.Ala102=
• NP_203123.1:p.Ala102=
• NP_203123.1:p.Ala102=
• LRG_329t1:c.306G>A
• LRG_329:g.16908G>A
• LRG_329p1:p.Ala102=
• NC_000003.11:g.8787403G>A
• NM_033337.2:c.306G>A
• c.306G>A
• p.Ala102Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs149375325

NCBI 1000 Genomes Browser:

rs149375325

Molecular consequence:

• NM_001234.5:c.306G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033337.3:c.306G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1