ClinVar

NM_004369.4(COL6A3):c.8698A>G (p.Ile2900Val)

Gene:

COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237336402 (on Assembly GRCh38)
• Chr2: 238245045 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.8698A>G (p.Ile2900Val)

HGVS:

• NC_000002.12:g.237336402T>C
• NG_008676.1:g.82806A>G
• NM_004369.4:c.8698A>GMANE SELECT
• NM_057166.5:c.6877A>G
• NM_057167.4:c.8080A>G
• NP_004360.2:p.Ile2900Val
• NP_476507.3:p.Ile2293Val
• NP_476508.2:p.Ile2694Val
• LRG_473:g.82806A>G
• NC_000002.11:g.238245045T>C

This HGVS expression did not pass validation

Protein change:

I2293V

Links:

dbSNP: rs1553544853

NCBI 1000 Genomes Browser:

rs1553544853

Molecular consequence:

• NM_004369.4:c.8698A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_057166.5:c.6877A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_057167.4:c.8080A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1