ClinVar

NM_004370.6(COL12A1):c.8623G>A (p.Gly2875Arg)

Gene:

COL12A1:collagen type XII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

• Chr6: 75095134 (on Assembly GRCh38)
• Chr6: 75804850 (on Assembly GRCh37)

Preferred name:

NM_004370.6(COL12A1):c.8623G>A (p.Gly2875Arg)

HGVS:

• NC_000006.12:g.75095134C>T
• NG_042181.1:g.115774G>A
• NM_001424113.1:c.8623G>A
• NM_001424114.1:c.8602G>A
• NM_001424115.1:c.8350G>A
• NM_001424116.1:c.5131G>A
• NM_004370.6:c.8623G>AMANE SELECT
• NM_080645.3:c.5131G>A
• NP_001411042.1:p.Gly2875Arg
• NP_001411043.1:p.Gly2868Arg
• NP_001411044.1:p.Gly2784Arg
• NP_001411045.1:p.Gly1711Arg
• NP_004361.3:p.Gly2875Arg
• NP_542376.2:p.Gly1711Arg
• NC_000006.11:g.75804850C>T
• NM_004370.5:c.8623G>A

This HGVS expression did not pass validation

Protein change:

G1711R

Molecular consequence:

• NM_001424113.1:c.8623G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001424114.1:c.8602G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001424115.1:c.8350G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001424116.1:c.5131G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004370.6:c.8623G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080645.3:c.5131G>A - missense variant - [Sequence Ontology: SO:0001583]