ClinVar

NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237381334 (on Assembly GRCh38)
• Chr2: 238289977 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)

HGVS:

• NC_000002.12:g.237381334A>G
• NG_008676.1:g.37874T>C
• NM_004369.4:c.1478T>CMANE SELECT
• NM_057164.5:c.257T>C
• NM_057165.5:c.860T>C
• NM_057166.5:c.257T>C
• NM_057167.4:c.860T>C
• NP_004360.2:p.Val493Ala
• NP_004360.2:p.Val493Ala
• NP_476505.3:p.Val86Ala
• NP_476506.3:p.Val287Ala
• NP_476507.3:p.Val86Ala
• NP_476508.2:p.Val287Ala
• LRG_473t1:c.1478T>C
• LRG_473:g.37874T>C
• LRG_473p1:p.Val493Ala
• NC_000002.11:g.238289977A>G
• NM_004369.3:c.1478T>C

This HGVS expression did not pass validation

Protein change:

V287A

Links:

dbSNP: rs116794756

NCBI 1000 Genomes Browser:

rs116794756

Molecular consequence:

• NM_004369.4:c.1478T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_057164.5:c.257T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_057165.5:c.860T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_057166.5:c.257T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_057167.4:c.860T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1