ClinVar

NM_000185.4(SERPIND1):c.863T>C (p.Met288Thr)

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: 20780175 (on Assembly GRCh38)
• Chr22: 21134463 (on Assembly GRCh37)

Preferred name:

NM_000185.4(SERPIND1):c.863T>C (p.Met288Thr)

HGVS:

• NC_000022.11:g.20780175T>C
• NG_012076.2:g.11081T>C
• NG_033052.2:g.83638A>G
• NM_000185.4:c.863T>CMANE SELECT
• NM_001362862.2:c.2328+13018A>G
• NM_001362863.2:c.2262+13018A>G
• NM_058004.4:c.2328+13018A>GMANE SELECT
• NP_000176.2:p.Met288Thr
• LRG_594t1:c.863T>C
• LRG_594:g.11081T>C
• LRG_594p1:p.Met288Thr
• NC_000022.10:g.21134463T>C
• NM_000185.3:c.863T>C

This HGVS expression did not pass validation

Protein change:

M288T

Molecular consequence:

• NM_001362862.2:c.2328+13018A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362863.2:c.2262+13018A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_058004.4:c.2328+13018A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000185.4:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]