ClinVar

NM_020203.6(MEPE):c.1171G>A (p.Ala391Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q22.1

Genomic location:

• Chr4: 87846039 (on Assembly GRCh38)
• Chr4: 88767191 (on Assembly GRCh37)

Preferred name:

NM_020203.6(MEPE):c.1171G>A (p.Ala391Thr)

HGVS:

• NC_000004.12:g.87846039G>A
• NG_034073.1:g.29642G>A
• NM_001184694.3:c.1171G>A
• NM_001184695.4:c.832G>A
• NM_001184696.2:c.832G>A
• NM_001184697.2:c.832G>A
• NM_001291183.2:c.1264G>A
• NM_020203.6:c.1171G>AMANE SELECT
• NP_001171623.1:p.Ala391Thr
• NP_001171624.1:p.Ala278Thr
• NP_001171625.1:p.Ala278Thr
• NP_001171626.1:p.Ala278Thr
• NP_001278112.1:p.Ala422Thr
• NP_001278112.1:p.Ala422Thr
• NP_064588.1:p.Ala391Thr
• NC_000004.11:g.88767191G>A
• NM_001291183.1:c.1264G>A

This HGVS expression did not pass validation

Protein change:

A278T

Links:

dbSNP: rs79592550

NCBI 1000 Genomes Browser:

rs79592550

Molecular consequence:

• NM_001184694.3:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184695.4:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184696.2:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184697.2:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291183.2:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020203.6:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]