ClinVar

NM_000185.4(SERPIND1):c.231C>A (p.Asp77Glu)

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: 20779543 (on Assembly GRCh38)
• Chr22: 21133831 (on Assembly GRCh37)

Preferred name:

NM_000185.4(SERPIND1):c.231C>A (p.Asp77Glu)

HGVS:

• NC_000022.11:g.20779543C>A
• NG_012076.2:g.10449C>A
• NG_033052.2:g.84270G>T
• NM_000185.4:c.231C>AMANE SELECT
• NM_001362862.2:c.2328+13650G>T
• NM_001362863.2:c.2262+13650G>T
• NM_058004.4:c.2328+13650G>TMANE SELECT
• NP_000176.2:p.Asp77Glu
• LRG_594t1:c.231C>A
• LRG_594:g.10449C>A
• LRG_594p1:p.Asp77Glu
• NC_000022.10:g.21133831C>A
• NM_000185.3:c.231C>A

This HGVS expression did not pass validation

Protein change:

D77E

Links:

dbSNP: rs5903

NCBI 1000 Genomes Browser:

rs5903

Molecular consequence:

• NM_001362862.2:c.2328+13650G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362863.2:c.2262+13650G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_058004.4:c.2328+13650G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000185.4:c.231C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

9