ClinVar

NM_004369.4(COL6A3):c.5270A>C (p.Glu1757Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237366917 (on Assembly GRCh38)
• Chr2: 238275560 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.5270A>C (p.Glu1757Ala)

HGVS:

• NC_000002.12:g.237366917T>G
• NG_008676.1:g.52291A>C
• NG_098094.1:g.174T>G
• NM_004369.4:c.5270A>CMANE SELECT
• NM_057164.3:c.4769A>C
• NM_057165.3:c.4670A>C
• NM_057166.5:c.3449A>C
• NM_057167.4:c.4652A>C
• NP_004360.2:p.Glu1757Ala
• NP_004360.2:p.Glu1757Ala
• NP_476505.2:p.Glu1590Ala
• NP_476506.2:p.Glu1557Ala
• NP_476507.3:p.Glu1150Ala
• NP_476508.2:p.Glu1551Ala
• LRG_473t1:c.5270A>C
• LRG_473:g.52291A>C
• LRG_473p1:p.Glu1757Ala
• NC_000002.11:g.238275560T>G
• NM_004369.3:c.5270A>C

This HGVS expression did not pass validation

Protein change:

E1150A

Molecular consequence:

• NM_004369.4:c.5270A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_057164.3:c.4769A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_057165.3:c.4670A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_057166.5:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_057167.4:c.4652A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1