ClinVar

NM_080680.3(COL11A2):c.4929C>T (p.Leu1643=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33164408 (on Assembly GRCh38)
• Chr6: 33132185 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.4929C>T (p.Leu1643=)

HGVS:

• NC_000006.12:g.33164408G>A
• NG_011589.1:g.33061C>T
• NM_080679.3:c.4608C>T
• NM_080680.3:c.4929C>TMANE SELECT
• NM_080681.3:c.4671C>T
• NP_542410.2:p.Leu1536=
• NP_542411.2:p.Leu1643=
• NP_542412.2:p.Leu1557=
• NC_000006.11:g.33132185G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs746604769

NCBI 1000 Genomes Browser:

rs746604769

Molecular consequence:

• NM_080679.3:c.4608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080680.3:c.4929C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080681.3:c.4671C>T - synonymous variant - [Sequence Ontology: SO:0001819]