ClinVar

NM_001366298.2(BCAS1):c.1753G>C (p.Asp585His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.2

Genomic location:

• Chr20: 53953494 (on Assembly GRCh38)
• Chr20: 52570033 (on Assembly GRCh37)

Preferred name:

NM_001366298.2(BCAS1):c.1753G>C (p.Asp585His)

HGVS:

• NC_000020.11:g.53953494C>G
• NM_001316361.3:c.1384G>C
• NM_001323347.2:c.1384G>C
• NM_001366295.2:c.1576G>C
• NM_001366296.2:c.1552G>C
• NM_001366297.2:c.1342G>C
• NM_001366298.2:c.1753G>CMANE SELECT
• NM_003657.4:c.1618G>C
• NP_001303290.1:p.Asp462His
• NP_001310276.1:p.Asp462His
• NP_001353224.1:p.Asp526His
• NP_001353225.1:p.Asp518His
• NP_001353226.1:p.Asp448His
• NP_001353227.1:p.Asp585His
• NP_003648.2:p.Asp540His
• NC_000020.10:g.52570033C>G
• NM_003657.2:c.1618G>C

This HGVS expression did not pass validation

Protein change:

D448H

Molecular consequence:

• NM_001316361.3:c.1384G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323347.2:c.1384G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366295.2:c.1576G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366296.2:c.1552G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366297.2:c.1342G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366298.2:c.1753G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003657.4:c.1618G>C - missense variant - [Sequence Ontology: SO:0001583]