ClinVar

NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met)

Genes:

LOC126805612:MED14-independent group 3 enhancer GRCh37_chr1:9778914-9780113 [Gene]
PIK3CD:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 9720166 (on Assembly GRCh38)
• Chr1: 9780224 (on Assembly GRCh37)

Preferred name:

NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met)

HGVS:

• NC_000001.11:g.9720166C>T
• NG_023434.1:g.73435C>T
• NM_001350234.2:c.1394C>T
• NM_001350235.1:c.1307C>T
• NM_005026.5:c.1394C>TMANE SELECT
• NP_001337163.1:p.Thr465Met
• NP_001337164.1:p.Thr436Met
• NP_005017.3:p.Thr465Met
• LRG_191t1:c.1394C>T
• LRG_191:g.73435C>T
• NC_000001.10:g.9780224C>T
• NM_005026.3:c.1394C>T

This HGVS expression did not pass validation

Protein change:

T436M

Links:

dbSNP: rs368722127

NCBI 1000 Genomes Browser:

rs368722127

Molecular consequence:

• NM_001350234.2:c.1394C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350235.1:c.1307C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005026.5:c.1394C>T - missense variant - [Sequence Ontology: SO:0001583]