ClinVar

NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)

Gene:

COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33164337 (on Assembly GRCh38)
• Chr6: 33132114 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)

HGVS:

• NC_000006.12:g.33164337C>T
• NG_011589.1:g.33132G>A
• NM_080679.3:c.4679G>A
• NM_080680.3:c.5000G>AMANE SELECT
• NM_080681.3:c.4742G>A
• NP_542410.2:p.Arg1560His
• NP_542411.2:p.Arg1667His
• NP_542411.2:p.Arg1667His
• NP_542412.2:p.Arg1581His
• NC_000006.11:g.33132114C>T
• NM_080680.2:c.5000G>A
• p.(Arg1667His)

This HGVS expression did not pass validation

Protein change:

R1560H

Links:

dbSNP: rs146555195

NCBI 1000 Genomes Browser:

rs146555195

Molecular consequence:

• NM_080679.3:c.4679G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080680.3:c.5000G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080681.3:c.4742G>A - missense variant - [Sequence Ontology: SO:0001583]