ClinVar

NM_001393.4(ECM2):c.1708C>T (p.Arg570Trp)

Genes:

CENPP:centromere protein P [Gene - OMIM - HGNC]
ECM2:extracellular matrix protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.31

Genomic location:

• Chr9: 92500950 (on Assembly GRCh38)
• Chr9: 95263232 (on Assembly GRCh37)

Preferred name:

NM_001393.4(ECM2):c.1708C>T (p.Arg570Trp)

HGVS:

• NC_000009.12:g.92500950G>A
• NM_001012267.3:c.565-110364G>AMANE SELECT
• NM_001197295.2:c.1642C>T
• NM_001197296.2:c.1642C>T
• NM_001286969.1:c.229-110364G>A
• NM_001393.4:c.1708C>TMANE SELECT
• NP_001184224.1:p.Arg548Trp
• NP_001184225.1:p.Arg548Trp
• NP_001384.1:p.Arg570Trp
• NC_000009.11:g.95263232G>A
• NM_001393.3:c.1708C>T

This HGVS expression did not pass validation

Protein change:

R548W

Molecular consequence:

• NM_001012267.3:c.565-110364G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286969.1:c.229-110364G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001197295.2:c.1642C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197296.2:c.1642C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393.4:c.1708C>T - missense variant - [Sequence Ontology: SO:0001583]