ClinVar

NM_080680.3(COL11A2):c.5071-5T>G

Gene:

COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33163823 (on Assembly GRCh38)
• Chr6: 33131600 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.5071-5T>G

HGVS:

• NC_000006.12:g.33163823A>C
• NG_011589.1:g.33646T>G
• NM_080679.3:c.4750-5T>G
• NM_080680.3:c.5071-5T>GMANE SELECT
• NM_080681.3:c.4813-5T>G
• NC_000006.11:g.33131600A>C
• NM_080680.2:c.5071-5T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs368309085

NCBI 1000 Genomes Browser:

rs368309085

Molecular consequence:

• NM_080679.3:c.4750-5T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_080680.3:c.5071-5T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_080681.3:c.4813-5T>G - intron variant - [Sequence Ontology: SO:0001627]