ClinVar

NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237336254 (on Assembly GRCh38)
• Chr2: 238244897 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu)

HGVS:

• NC_000002.12:g.237336254G>A
• NG_008676.1:g.82954C>T
• NM_004369.4:c.8846C>TMANE SELECT
• NM_057166.5:c.7025C>T
• NM_057167.4:c.8228C>T
• NP_004360.2:p.Pro2949Leu
• NP_004360.2:p.Pro2949Leu
• NP_476507.3:p.Pro2342Leu
• NP_476508.2:p.Pro2743Leu
• LRG_473t1:c.8846C>T
• LRG_473:g.82954C>T
• LRG_473p1:p.Pro2949Leu
• NC_000002.11:g.238244897G>A
• NM_004369.3:c.8846C>T

This HGVS expression did not pass validation

Protein change:

P2342L

Links:

dbSNP: rs376021820

NCBI 1000 Genomes Browser:

rs376021820

Molecular consequence:

• NM_004369.4:c.8846C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_057166.5:c.7025C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_057167.4:c.8228C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1