ClinVar

NM_000095.3(COMP):c.1488C>A (p.Asp496Glu)

Gene:

COMP:cartilage oligomeric matrix protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

• Chr19: 18785966 (on Assembly GRCh38)
• Chr19: 18896776 (on Assembly GRCh37)

Preferred name:

NM_000095.3(COMP):c.1488C>A (p.Asp496Glu)

HGVS:

• NC_000019.10:g.18785966G>T
• NG_007070.1:g.10339C>A
• NM_000095.3:c.1488C>AMANE SELECT
• NP_000086.2:p.Asp496Glu
• NC_000019.9:g.18896776G>T
• NM_000095.2:c.1488C>A

This HGVS expression did not pass validation

Protein change:

D496E

Links:

dbSNP: rs143714206

NCBI 1000 Genomes Browser:

rs143714206

Molecular consequence:

• NM_000095.3:c.1488C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1