ClinVar

NM_003986.3(BBOX1):c.743C>T (p.Ala248Val)

Genes:

BBOX1-AS1:BBOX1 antisense RNA 1 [Gene - HGNC]
BBOX1:gamma-butyrobetaine hydroxylase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.2

Genomic location:

• Chr11: 27119752 (on Assembly GRCh38)
• Chr11: 27141299 (on Assembly GRCh37)

Preferred name:

NM_003986.3(BBOX1):c.743C>T (p.Ala248Val)

HGVS:

• NC_000011.10:g.27119752C>T
• NM_001376258.1:c.743C>T
• NM_001376259.1:c.743C>T
• NM_001376260.1:c.743C>T
• NM_001376261.1:c.743C>T
• NM_003986.3:c.743C>TMANE SELECT
• NP_001363187.1:p.Ala248Val
• NP_001363188.1:p.Ala248Val
• NP_001363189.1:p.Ala248Val
• NP_001363190.1:p.Ala248Val
• NP_003977.1:p.Ala248Val
• NC_000011.9:g.27141299C>T
• NM_003986.2:c.743C>T

This HGVS expression did not pass validation

Protein change:

A248V

Molecular consequence:

• NM_001376258.1:c.743C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376259.1:c.743C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376260.1:c.743C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376261.1:c.743C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003986.3:c.743C>T - missense variant - [Sequence Ontology: SO:0001583]