ClinVar

NM_001134438.2(PHLDB2):c.293G>A (p.Gly98Glu)

Gene:

PHLDB2:pleckstrin homology like domain family B member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.2

Genomic location:

• Chr3: 111884370 (on Assembly GRCh38)
• Chr3: 111603217 (on Assembly GRCh37)

Preferred name:

NM_001134438.2(PHLDB2):c.293G>A (p.Gly98Glu)

HGVS:

• NC_000003.12:g.111884370G>A
• NM_001134437.2:c.374G>A
• NM_001134438.2:c.293G>AMANE SELECT
• NM_001134439.2:c.293G>A
• NM_145753.2:c.293G>A
• NP_001127909.1:p.Gly125Glu
• NP_001127910.1:p.Gly98Glu
• NP_001127911.1:p.Gly98Glu
• NP_665696.1:p.Gly98Glu
• NC_000003.11:g.111603217G>A
• NM_001134438.1:c.293G>A

This HGVS expression did not pass validation

Protein change:

G125E

Molecular consequence:

• NM_001134437.2:c.374G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134438.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134439.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145753.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]