ClinVar

NM_001369268.1(ACAN):c.5756C>T (p.Ser1919Leu)

Gene:

ACAN:aggrecan [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 88858341 (on Assembly GRCh38)
• Chr15: 89401572 (on Assembly GRCh37)

Preferred name:

NM_001369268.1(ACAN):c.5756C>T (p.Ser1919Leu)

HGVS:

• NC_000015.10:g.88858341C>T
• NG_012794.1:g.59899C>T
• NM_001135.4:c.5756C>T
• NM_001369268.1:c.5756C>TMANE SELECT
• NM_001411096.1:c.5756C>T
• NM_001411097.1:c.5756C>T
• NM_013227.4:c.5756C>T
• NP_001126.3:p.Ser1919Leu
• NP_001356197.1:p.Ser1919Leu
• NP_001398025.1:p.Ser1919Leu
• NP_001398026.1:p.Ser1919Leu
• NP_037359.3:p.Ser1919Leu
• NC_000015.9:g.89401572C>T

This HGVS expression did not pass validation

Protein change:

S1919L

Molecular consequence:

• NM_001135.4:c.5756C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369268.1:c.5756C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001411096.1:c.5756C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001411097.1:c.5756C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013227.4:c.5756C>T - missense variant - [Sequence Ontology: SO:0001583]