ClinVar

NM_004369.4(COL6A3):c.985G>A (p.Val329Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237387909 (on Assembly GRCh38)
• Chr2: 238296552 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.985G>A (p.Val329Met)

HGVS:

• NC_000002.12:g.237387909C>T
• NG_008676.1:g.31299G>A
• NM_004369.4:c.985G>AMANE SELECT
• NM_057164.5:c.92-6410G>A
• NM_057165.5:c.367G>A
• NM_057166.5:c.92-6410G>A
• NM_057167.4:c.367G>A
• NP_004360.2:p.Val329Met
• NP_476506.3:p.Val123Met
• NP_476508.2:p.Val123Met
• NP_476508.2:p.Val123Met
• LRG_473:g.31299G>A
• NC_000002.11:g.238296552C>T
• NC_000002.11:g.238296552C>T
• NM_057167.3:c.367G>A

This HGVS expression did not pass validation

Protein change:

V123M

Links:

dbSNP: rs542283928

NCBI 1000 Genomes Browser:

rs542283928

Molecular consequence:

• NM_057164.5:c.92-6410G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_057166.5:c.92-6410G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004369.4:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_057165.5:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_057167.4:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]