ClinVar

NM_004369.4(COL6A3):c.1897+159G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237380756 (on Assembly GRCh38)
• Chr2: 238289399 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.1897+159G>T

HGVS:

• NC_000002.12:g.237380756C>A
• NG_008676.1:g.38452G>T
• NM_004369.4:c.1897+159G>TMANE SELECT
• NM_057164.5:c.676+159G>T
• NM_057165.5:c.1279+159G>T
• NM_057166.5:c.676+159G>T
• NM_057167.4:c.1279+159G>T
• LRG_473:g.38452G>T
• NC_000002.11:g.238289399C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs143755768

NCBI 1000 Genomes Browser:

rs143755768

Molecular consequence:

• NM_004369.4:c.1897+159G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_057164.5:c.676+159G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_057165.5:c.1279+159G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_057166.5:c.676+159G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_057167.4:c.1279+159G>T - intron variant - [Sequence Ontology: SO:0001627]