ClinVar

NM_058004.4(PI4KA):c.5137G>C (p.Asp1713His)

Gene:

PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 20718802 (on Assembly GRCh38)
• Chr22: 21073090 (on Assembly GRCh37)

Preferred name:

NM_058004.4(PI4KA):c.5137G>C (p.Asp1713His)

HGVS:

• NC_000022.11:g.20718802C>G
• NG_033052.2:g.145011G>C
• NM_001362862.2:c.5044G>C
• NM_001362863.2:c.5071G>C
• NM_058004.4:c.5137G>CMANE SELECT
• NP_001349791.1:p.Asp1682His
• NP_001349792.1:p.Asp1691His
• NP_477352.3:p.Asp1713His
• NC_000022.10:g.21073090C>G
• NM_058004.3:c.5137G>C

This HGVS expression did not pass validation

Protein change:

D1682H

Links:

dbSNP: rs142131375

NCBI 1000 Genomes Browser:

rs142131375

Molecular consequence:

• NM_001362862.2:c.5044G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362863.2:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_058004.4:c.5137G>C - missense variant - [Sequence Ontology: SO:0001583]