ClinVar

NM_004370.6(COL12A1):c.2972C>A (p.Ala991Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

• Chr6: 75165518 (on Assembly GRCh38)
• Chr6: 75875234 (on Assembly GRCh37)

Preferred name:

NM_004370.6(COL12A1):c.2972C>A (p.Ala991Asp)

Other names:

p.Ala991Asp

HGVS:

• NC_000006.12:g.75165518G>T
• NG_042181.1:g.45390C>A
• NM_001424113.1:c.2972C>A
• NM_001424114.1:c.2972C>A
• NM_001424115.1:c.2699C>A
• NM_001424116.1:c.74-13036C>A
• NM_004370.6:c.2972C>AMANE SELECT
• NM_080645.3:c.74-13036C>A
• NP_001411042.1:p.Ala991Asp
• NP_001411043.1:p.Ala991Asp
• NP_001411044.1:p.Ala900Asp
• NP_004361.3:p.Ala991Asp
• NC_000006.11:g.75875234G>T
• NM_004370.5:c.2972C>A

This HGVS expression did not pass validation

Protein change:

A900D

Molecular consequence:

• NM_001424116.1:c.74-13036C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_080645.3:c.74-13036C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001424113.1:c.2972C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001424114.1:c.2972C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001424115.1:c.2699C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004370.6:c.2972C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1