ClinVar

NM_001366298.2(BCAS1):c.154A>G (p.Ile52Val)

Gene:

BCAS1:brain enriched myelin associated protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.2

Genomic location:

• Chr20: 54028961 (on Assembly GRCh38)
• Chr20: 52645500 (on Assembly GRCh37)

Preferred name:

NM_001366298.2(BCAS1):c.154A>G (p.Ile52Val)

HGVS:

• NC_000020.11:g.54028961T>C
• NM_001316361.3:c.154A>G
• NM_001323347.2:c.154A>G
• NM_001366295.2:c.154A>G
• NM_001366296.2:c.154A>G
• NM_001366297.2:c.154A>G
• NM_001366298.2:c.154A>GMANE SELECT
• NM_003657.4:c.154A>G
• NP_001303290.1:p.Ile52Val
• NP_001310276.1:p.Ile52Val
• NP_001353224.1:p.Ile52Val
• NP_001353225.1:p.Ile52Val
• NP_001353226.1:p.Ile52Val
• NP_001353227.1:p.Ile52Val
• NP_003648.2:p.Ile52Val
• NC_000020.10:g.52645500T>C
• NM_003657.2:c.154A>G

This HGVS expression did not pass validation

Protein change:

I52V

Molecular consequence:

• NM_001316361.3:c.154A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323347.2:c.154A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366295.2:c.154A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366296.2:c.154A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366297.2:c.154A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366298.2:c.154A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003657.4:c.154A>G - missense variant - [Sequence Ontology: SO:0001583]