ClinVar

NM_198531.5(ATP9B):c.2696C>T (p.Ala899Val)

Gene:

ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q23

Genomic location:

• Chr18: 79347783 (on Assembly GRCh38)
• Chr18: 77107783 (on Assembly GRCh37)

Preferred name:

NM_198531.5(ATP9B):c.2696C>T (p.Ala899Val)

HGVS:

• NC_000018.10:g.79347783C>T
• NM_001306085.2:c.2696C>T
• NM_198531.5:c.2696C>TMANE SELECT
• NP_001293014.1:p.Ala899Val
• NP_940933.3:p.Ala899Val
• NC_000018.9:g.77107783C>T
• NM_198531.3:c.2696C>T
• NR_148360.2:n.2898C>T

This HGVS expression did not pass validation

Protein change:

A899V

Molecular consequence:

• NM_001306085.2:c.2696C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198531.5:c.2696C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148360.2:n.2898C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]