ClinVar

NM_002429.6(MMP19):c.749G>T (p.Gly250Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 55839513 (on Assembly GRCh38)
• Chr12: 56233297 (on Assembly GRCh37)

Preferred name:

NM_002429.6(MMP19):c.749G>T (p.Gly250Val)

HGVS:

• NC_000012.12:g.55839513C>A
• NG_042870.1:g.8471G>T
• NG_042870.2:g.8423G>T
• NM_001272101.2:c.521-779G>T
• NM_001414375.1:c.521-779G>T
• NM_002429.6:c.749G>TMANE SELECT
• NM_022791.2:c.512G>T
• NP_002420.1:p.Gly250Val
• NP_073628.1:p.Gly171Val
• NC_000012.11:g.56233297C>A
• NM_002429.4:c.749G>T
• NR_073606.2:n.826G>T
• NR_182299.1:n.855G>T

This HGVS expression did not pass validation

Protein change:

G171V

Molecular consequence:

• NM_001272101.2:c.521-779G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001414375.1:c.521-779G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002429.6:c.749G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022791.2:c.512G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_073606.2:n.826G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_182299.1:n.855G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]