ClinVar

NM_001849.4(COL6A2):c.-6G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46111471 (on Assembly GRCh38)
• Chr21: 47531385 (on Assembly GRCh37)

Preferred name:

NM_001849.4(COL6A2):c.-6G>A

HGVS:

• NC_000021.9:g.46111471G>A
• NG_008675.1:g.18353G>A
• NM_001849.4:c.-6G>AMANE SELECT
• NM_058174.3:c.-6G>A
• NM_058175.3:c.-6G>A
• LRG_476:g.18353G>A
• NC_000021.8:g.47531385G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs757279009

NCBI 1000 Genomes Browser:

rs757279009

Molecular consequence:

• NM_001849.4:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_058174.3:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_058175.3:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Observations:

1