ClinVar

NM_001849.4(COL6A2):c.1817-8C>A

Gene:

COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46125457 (on Assembly GRCh38)
• Chr21: 47545371 (on Assembly GRCh37)

Preferred name:

NM_001849.4(COL6A2):c.1817-8C>A

HGVS:

• NC_000021.9:g.46125457C>A
• NG_008675.1:g.32339C>A
• NM_001849.4:c.1817-8C>AMANE SELECT
• NM_058174.3:c.1817-8C>A
• NM_058175.3:c.1817-8C>A
• LRG_476t1:c.1817-8C>A
• LRG_476:g.32339C>A
• NC_000021.8:g.47545371C>A
• NM_001849.3:c.1817-8C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs750444649

NCBI 1000 Genomes Browser:

rs750444649

Molecular consequence:

• NM_001849.4:c.1817-8C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_058174.3:c.1817-8C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_058175.3:c.1817-8C>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2