ClinVar

NM_002429.6(MMP19):c.481C>T (p.Arg161Cys)

Gene:

MMP19:matrix metallopeptidase 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 55840706 (on Assembly GRCh38)
• Chr12: 56234490 (on Assembly GRCh37)

Preferred name:

NM_002429.6(MMP19):c.481C>T (p.Arg161Cys)

HGVS:

• NC_000012.12:g.55840706G>A
• NG_042870.1:g.7278C>T
• NG_042870.2:g.7230C>T
• NM_001272101.2:c.481C>T
• NM_001414375.1:c.481C>T
• NM_002429.6:c.481C>TMANE SELECT
• NM_022791.2:c.244C>T
• NP_001259030.1:p.Arg161Cys
• NP_001401304.1:p.Arg161Cys
• NP_002420.1:p.Arg161Cys
• NP_073628.1:p.Arg82Cys
• NC_000012.11:g.56234490G>A
• NM_002429.4:c.481C>T
• NR_073606.2:n.558C>T
• NR_182299.1:n.587C>T

This HGVS expression did not pass validation

Protein change:

R161C

Molecular consequence:

• NM_001272101.2:c.481C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414375.1:c.481C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002429.6:c.481C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022791.2:c.244C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_073606.2:n.558C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_182299.1:n.587C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1