ClinVar

NM_002429.6(MMP19):c.729G>A (p.Leu243=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 55839533 (on Assembly GRCh38)
• Chr12: 56233317 (on Assembly GRCh37)

Preferred name:

NM_002429.6(MMP19):c.729G>A (p.Leu243=)

HGVS:

• NC_000012.12:g.55839533C>T
• NG_042870.1:g.8451G>A
• NG_042870.2:g.8403G>A
• NM_001272101.2:c.521-799G>A
• NM_001414375.1:c.521-799G>A
• NM_002429.6:c.729G>AMANE SELECT
• NM_022791.2:c.492G>A
• NP_002420.1:p.Leu243=
• NP_073628.1:p.Leu164=
• NC_000012.11:g.56233317C>T
• NR_073606.2:n.806G>A
• NR_182299.1:n.835G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001272101.2:c.521-799G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001414375.1:c.521-799G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_073606.2:n.806G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_182299.1:n.835G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_002429.6:c.729G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022791.2:c.492G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1