ClinVar

NM_001378074.1(BOC):c.2522C>T (p.Pro841Leu)

Gene:

BOC:BOC cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.2

Genomic location:

• Chr3: 113283498 (on Assembly GRCh38)
• Chr3: 113002345 (on Assembly GRCh37)

Preferred name:

NM_001378074.1(BOC):c.2522C>T (p.Pro841Leu)

HGVS:

• NC_000003.12:g.113283498C>T
• NM_001301861.2:c.2522C>T
• NM_001378073.1:c.2522C>T
• NM_001378074.1:c.2522C>TMANE SELECT
• NM_001378075.1:c.2519C>T
• NM_001387919.1:c.2522C>T
• NM_001387920.1:c.2519C>T
• NM_001387921.1:c.2519C>T
• NM_001387924.1:c.2249C>T
• NM_001387925.1:c.2519C>T
• NM_033254.4:c.2519C>T
• NP_001288790.1:p.Pro841Leu
• NP_001365002.1:p.Pro841Leu
• NP_001365003.1:p.Pro841Leu
• NP_001365004.1:p.Pro840Leu
• NP_001374848.1:p.Pro841Leu
• NP_001374849.1:p.Pro840Leu
• NP_001374850.1:p.Pro840Leu
• NP_001374853.1:p.Pro750Leu
• NP_001374854.1:p.Pro840Leu
• NP_150279.1:p.Pro840Leu
• NC_000003.11:g.113002345C>T
• NM_033254.2:c.2519C>T
• NR_170866.1:n.3098C>T

This HGVS expression did not pass validation

Protein change:

P750L

Molecular consequence:

• NM_001301861.2:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378073.1:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378074.1:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378075.1:c.2519C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387919.1:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387920.1:c.2519C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387921.1:c.2519C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387924.1:c.2249C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387925.1:c.2519C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033254.4:c.2519C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_170866.1:n.3098C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]