ClinVar

NM_001288985.2(ABCA8):c.857T>A (p.Leu286His)

Gene:

ABCA8:ATP binding cassette subfamily A member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

• Chr17: 68929643 (on Assembly GRCh38)
• Chr17: 66925784 (on Assembly GRCh37)

Preferred name:

NM_001288985.2(ABCA8):c.857T>A (p.Leu286His)

HGVS:

• NC_000017.11:g.68929643A>T
• NM_001288985.2:c.857T>AMANE SELECT
• NM_001288986.2:c.857T>A
• NM_001375771.1:c.674T>A
• NM_001375772.1:c.-507T>A
• NM_007168.4:c.857T>A
• NP_001275914.1:p.Leu286His
• NP_001275915.1:p.Leu286His
• NP_001362700.1:p.Leu225His
• NP_009099.1:p.Leu286His
• NC_000017.10:g.66925784A>T
• NM_007168.2:c.857T>A

This HGVS expression did not pass validation

Protein change:

L225H

Molecular consequence:

• NM_001375772.1:c.-507T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001288985.2:c.857T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288986.2:c.857T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375771.1:c.674T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007168.4:c.857T>A - missense variant - [Sequence Ontology: SO:0001583]