ClinVar

NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237340570 (on Assembly GRCh38)
• Chr2: 238249213 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=)

HGVS:

• NC_000002.12:g.237340570C>T
• NG_008676.1:g.78638G>A
• NM_004369.4:c.8346G>AMANE SELECT
• NM_057166.5:c.6525G>A
• NM_057167.4:c.7728G>A
• NP_004360.2:p.Glu2782=
• NP_004360.2:p.Glu2782=
• NP_476507.3:p.Glu2175=
• NP_476508.2:p.Glu2576=
• LRG_473t1:c.8346G>A
• LRG_473:g.78638G>A
• LRG_473p1:p.Glu2782=
• NC_000002.11:g.238249213C>T
• NM_004369.3:c.8346G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs35911211

NCBI 1000 Genomes Browser:

rs35911211

Molecular consequence:

• NM_004369.4:c.8346G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057166.5:c.6525G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057167.4:c.7728G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2