ClinVar

NM_004369.4(COL6A3):c.5343C>A (p.Ile1781=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237366844 (on Assembly GRCh38)
• Chr2: 238275487 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.5343C>A (p.Ile1781=)

HGVS:

• NC_000002.12:g.237366844G>T
• NG_008676.1:g.52364C>A
• NG_098094.1:g.101G>T
• NM_004369.4:c.5343C>AMANE SELECT
• NM_057164.3:c.4842C>A
• NM_057165.3:c.4743C>A
• NM_057166.5:c.3522C>A
• NM_057167.4:c.4725C>A
• NP_004360.2:p.Ile1781=
• NP_004360.2:p.Ile1781=
• NP_476505.2:p.Ile1614=
• NP_476506.2:p.Ile1581=
• NP_476507.3:p.Ile1174=
• NP_476508.2:p.Ile1575=
• LRG_473t1:c.5343C>A
• LRG_473:g.52364C>A
• LRG_473p1:p.Ile1781=
• NC_000002.11:g.238275487G>T
• NM_004369.3:c.5343C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_004369.4:c.5343C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057164.3:c.4842C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057165.3:c.4743C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057166.5:c.3522C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057167.4:c.4725C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1