ClinVar

NM_133181.4(EPS8L3):c.1594G>A (p.Glu532Lys)

Genes:

LOC126805823:BRD4-independent group 4 enhancer GRCh37_chr1:110293035-110294234 [Gene]
EPS8L3:EPS8 signaling adaptor L3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.3

Genomic location:

• Chr1: 109751321 (on Assembly GRCh38)
• Chr1: 110293943 (on Assembly GRCh37)

Preferred name:

NM_133181.4(EPS8L3):c.1594G>A (p.Glu532Lys)

HGVS:

• NC_000001.11:g.109751321C>T
• NG_082147.1:g.1009C>T
• NM_001319952.2:c.1405G>A
• NM_024526.4:c.1504G>A
• NM_133181.4:c.1594G>AMANE SELECT
• NM_139053.3:c.1597G>A
• NP_001306881.1:p.Glu469Lys
• NP_078802.2:p.Glu502Lys
• NP_573444.2:p.Glu532Lys
• NP_620641.1:p.Glu533Lys
• NC_000001.10:g.110293943C>T
• NM_139053.2:c.1597G>A

This HGVS expression did not pass validation

Protein change:

E469K

Molecular consequence:

• NM_001319952.2:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024526.4:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133181.4:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139053.3:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1