ClinVar

NM_004369.4(COL6A3):c.8397C>T (p.Asp2799=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237340519 (on Assembly GRCh38)
• Chr2: 238249162 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.8397C>T (p.Asp2799=)

HGVS:

• NC_000002.12:g.237340519G>A
• NG_008676.1:g.78689C>T
• NM_004369.4:c.8397C>TMANE SELECT
• NM_057166.5:c.6576C>T
• NM_057167.4:c.7779C>T
• NP_004360.2:p.Asp2799=
• NP_476507.3:p.Asp2192=
• NP_476508.2:p.Asp2593=
• LRG_473:g.78689C>T
• NC_000002.11:g.238249162G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1553546085

NCBI 1000 Genomes Browser:

rs1553546085

Molecular consequence:

• NM_004369.4:c.8397C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057166.5:c.6576C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057167.4:c.7779C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1