ClinVar

NM_020203.6(MEPE):c.1153G>A (p.Glu385Lys)

Gene:

MEPE:matrix extracellular phosphoglycoprotein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q22.1

Genomic location:

• Chr4: 87846021 (on Assembly GRCh38)
• Chr4: 88767173 (on Assembly GRCh37)

Preferred name:

NM_020203.6(MEPE):c.1153G>A (p.Glu385Lys)

HGVS:

• NC_000004.12:g.87846021G>A
• NG_034073.1:g.29624G>A
• NM_001184694.3:c.1153G>A
• NM_001184695.4:c.814G>A
• NM_001184696.2:c.814G>A
• NM_001184697.2:c.814G>A
• NM_001291183.2:c.1246G>A
• NM_020203.6:c.1153G>AMANE SELECT
• NP_001171623.1:p.Glu385Lys
• NP_001171624.1:p.Glu272Lys
• NP_001171625.1:p.Glu272Lys
• NP_001171626.1:p.Glu272Lys
• NP_001278112.1:p.Glu416Lys
• NP_064588.1:p.Glu385Lys
• NC_000004.11:g.88767173G>A
• NM_001184694.1:c.1153G>A

This HGVS expression did not pass validation

Protein change:

E272K

Molecular consequence:

• NM_001184694.3:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184695.4:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184696.2:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184697.2:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291183.2:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020203.6:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]