ClinVar

NM_001369268.1(ACAN):c.230G>A (p.Arg77His)

Gene:

ACAN:aggrecan [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 88838822 (on Assembly GRCh38)
• Chr15: 89382053 (on Assembly GRCh37)

Preferred name:

NM_001369268.1(ACAN):c.230G>A (p.Arg77His)

HGVS:

• NC_000015.10:g.88838822G>A
• NG_012794.1:g.40380G>A
• NM_001135.4:c.230G>A
• NM_001369268.1:c.230G>AMANE SELECT
• NM_013227.4:c.230G>A
• NP_001126.3:p.Arg77His
• NP_001356197.1:p.Arg77His
• NP_037359.3:p.Arg77His
• NP_037359.3:p.Arg77His
• NC_000015.9:g.89382053G>A
• NM_013227.3:c.230G>A

This HGVS expression did not pass validation

Protein change:

R77H

Links:

dbSNP: rs199701329

NCBI 1000 Genomes Browser:

rs199701329

Molecular consequence:

• NM_001135.4:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369268.1:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_013227.4:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]