ClinVar

NM_002429.6(MMP19):c.778C>A (p.Pro260Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 55838723 (on Assembly GRCh38)
• Chr12: 56232507 (on Assembly GRCh37)

Preferred name:

NM_002429.6(MMP19):c.778C>A (p.Pro260Thr)

HGVS:

• NC_000012.12:g.55838723G>T
• NG_042870.1:g.9261C>A
• NG_042870.2:g.9213C>A
• NM_001272101.2:c.532C>A
• NM_001414375.1:c.532C>A
• NM_002429.6:c.778C>AMANE SELECT
• NM_022791.2:c.541C>A
• NP_001259030.1:p.Pro178Thr
• NP_001401304.1:p.Pro178Thr
• NP_002420.1:p.Pro260Thr
• NP_073628.1:p.Pro181Thr
• NC_000012.11:g.56232507G>T
• NM_002429.4:c.778C>A
• NR_073606.2:n.855C>A
• NR_182299.1:n.884C>A

This HGVS expression did not pass validation

Protein change:

P178T

Molecular consequence:

• NM_001272101.2:c.532C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414375.1:c.532C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002429.6:c.778C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022791.2:c.541C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_073606.2:n.855C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_182299.1:n.884C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]