ClinVar

NM_004369.4(COL6A3):c.7480G>T (p.Val2494Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237344538 (on Assembly GRCh38)
• Chr2: 238253181 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.7480G>T (p.Val2494Leu)

HGVS:

• NC_000002.12:g.237344538C>A
• NG_008676.1:g.74670G>T
• NM_004369.4:c.7480G>TMANE SELECT
• NM_057166.5:c.5659G>T
• NM_057167.4:c.6862G>T
• NP_004360.2:p.Val2494Leu
• NP_476507.3:p.Val1887Leu
• NP_476508.2:p.Val2288Leu
• LRG_473:g.74670G>T
• NC_000002.11:g.238253181C>A

This HGVS expression did not pass validation

Protein change:

V1887L

Links:

dbSNP: rs886044163

NCBI 1000 Genomes Browser:

rs886044163

Molecular consequence:

• NM_004369.4:c.7480G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_057166.5:c.5659G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_057167.4:c.6862G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1