ClinVar

NM_020203.6(MEPE):c.1130C>T (p.Ala377Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q22.1

Genomic location:

• Chr4: 87845998 (on Assembly GRCh38)
• Chr4: 88767150 (on Assembly GRCh37)

Preferred name:

NM_020203.6(MEPE):c.1130C>T (p.Ala377Val)

HGVS:

• NC_000004.12:g.87845998C>T
• NG_034073.1:g.29601C>T
• NM_001184694.3:c.1130C>T
• NM_001184695.4:c.791C>T
• NM_001184696.2:c.791C>T
• NM_001184697.2:c.791C>T
• NM_001291183.2:c.1223C>T
• NM_020203.6:c.1130C>TMANE SELECT
• NP_001171623.1:p.Ala377Val
• NP_001171624.1:p.Ala264Val
• NP_001171625.1:p.Ala264Val
• NP_001171626.1:p.Ala264Val
• NP_001278112.1:p.Ala408Val
• NP_064588.1:p.Ala377Val
• NC_000004.11:g.88767150C>T
• NM_001184694.1:c.1130C>T

This HGVS expression did not pass validation

Protein change:

A264V

Molecular consequence:

• NM_001184694.3:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184695.4:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184696.2:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184697.2:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291183.2:c.1223C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020203.6:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]