ClinVar

NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237340557 (on Assembly GRCh38)
• Chr2: 238249200 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)

HGVS:

• NC_000002.12:g.237340557C>T
• NG_008676.1:g.78651G>A
• NM_004369.4:c.8359G>AMANE SELECT
• NM_057166.5:c.6538G>A
• NM_057167.4:c.7741G>A
• NP_004360.2:p.Ala2787Thr
• NP_004360.2:p.Ala2787Thr
• NP_476507.3:p.Ala2180Thr
• NP_476508.2:p.Ala2581Thr
• LRG_473t1:c.8359G>A
• LRG_473:g.78651G>A
• LRG_473p1:p.Ala2787Thr
• NC_000002.11:g.238249200C>T
• NM_004369.3:c.8359G>A

This HGVS expression did not pass validation

Protein change:

A2180T

Links:

dbSNP: rs763395740

NCBI 1000 Genomes Browser:

rs763395740

Molecular consequence:

• NM_004369.4:c.8359G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_057166.5:c.6538G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_057167.4:c.7741G>A - missense variant - [Sequence Ontology: SO:0001583]