ClinVar

NM_001849.4(COL6A2):c.2010C>A (p.Thr670=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46125825 (on Assembly GRCh38)
• Chr21: 47545739 (on Assembly GRCh37)

Preferred name:

NM_001849.4(COL6A2):c.2010C>A (p.Thr670=)

HGVS:

• NC_000021.9:g.46125825C>A
• NG_008675.1:g.32707C>A
• NM_001849.4:c.2010C>AMANE SELECT
• NM_058174.3:c.2010C>A
• NM_058175.3:c.2010C>A
• NP_001840.3:p.Thr670=
• NP_478054.2:p.Thr670=
• NP_478055.2:p.Thr670=
• LRG_476:g.32707C>A
• NC_000021.8:g.47545739C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs142065958

NCBI 1000 Genomes Browser:

rs142065958

Molecular consequence:

• NM_001849.4:c.2010C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_058174.3:c.2010C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_058175.3:c.2010C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1