ClinVar

NM_000185.4(SERPIND1):c.437A>T (p.Asn146Ile)

Genes:

PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 20779749 (on Assembly GRCh38)
• Chr22: 21134037 (on Assembly GRCh37)

Preferred name:

NM_000185.4(SERPIND1):c.437A>T (p.Asn146Ile)

HGVS:

• NC_000022.11:g.20779749A>T
• NG_012076.2:g.10655A>T
• NG_033052.2:g.84064T>A
• NM_000185.4:c.437A>TMANE SELECT
• NM_001362862.2:c.2328+13444T>A
• NM_001362863.2:c.2262+13444T>A
• NM_058004.4:c.2328+13444T>AMANE SELECT
• NP_000176.2:p.Asn146Ile
• LRG_594t1:c.437A>T
• LRG_594:g.10655A>T
• LRG_594p1:p.Asn146Ile
• NC_000022.10:g.21134037A>T

This HGVS expression did not pass validation

Protein change:

N146I

Molecular consequence:

• NM_001362862.2:c.2328+13444T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362863.2:c.2262+13444T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_058004.4:c.2328+13444T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000185.4:c.437A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1