ClinVar

NM_020365.5(EIF2B3):c.284C>T (p.Pro95Leu)

Gene:

EIF2B3:eukaryotic translation initiation factor 2B subunit gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 44978325 (on Assembly GRCh38)
• Chr1: 45443997 (on Assembly GRCh37)

Preferred name:

NM_020365.5(EIF2B3):c.284C>T (p.Pro95Leu)

HGVS:

• NC_000001.11:g.44978325G>A
• NG_015864.1:g.13365C>T
• NM_001166588.3:c.284C>T
• NM_001261418.2:c.284C>T
• NM_020365.5:c.284C>TMANE SELECT
• NP_001160060.1:p.Pro95Leu
• NP_001248347.1:p.Pro95Leu
• NP_065098.1:p.Pro95Leu
• NC_000001.10:g.45443997G>A
• NM_020365.4:c.284C>T

This HGVS expression did not pass validation

Protein change:

P95L

Links:

dbSNP: rs778945531

NCBI 1000 Genomes Browser:

rs778945531

Molecular consequence:

• NM_001166588.3:c.284C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001261418.2:c.284C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020365.5:c.284C>T - missense variant - [Sequence Ontology: SO:0001583]