ClinVar

NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237336364 (on Assembly GRCh38)
• Chr2: 238245007 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=)

HGVS:

• NC_000002.12:g.237336364C>T
• NG_008676.1:g.82844G>A
• NG_098092.1:g.682C>T
• NG_098093.1:g.181C>T
• NM_004369.4:c.8736G>AMANE SELECT
• NM_057164.3:c.8235G>A
• NM_057165.3:c.8136G>A
• NM_057166.5:c.6915G>A
• NM_057167.4:c.8118G>A
• NP_004360.2:p.Pro2912=
• NP_004360.2:p.Pro2912=
• NP_476505.2:p.Pro2745=
• NP_476506.2:p.Pro2712=
• NP_476507.3:p.Pro2305=
• NP_476508.2:p.Pro2706=
• LRG_473t1:c.8736G>A
• LRG_473:g.82844G>A
• LRG_473p1:p.Pro2912=
• NC_000002.11:g.238245007C>T
• NM_004369.3:c.8736G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_004369.4:c.8736G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057164.3:c.8235G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057165.3:c.8136G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057166.5:c.6915G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057167.4:c.8118G>A - synonymous variant - [Sequence Ontology: SO:0001819]