ClinVar

NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33164387 (on Assembly GRCh38)
• Chr6: 33132164 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=)

HGVS:

• NC_000006.12:g.33164387G>A
• NG_011589.1:g.33082C>T
• NM_080679.3:c.4629C>T
• NM_080680.3:c.4950C>TMANE SELECT
• NM_080681.3:c.4692C>T
• NP_542410.2:p.Asp1543=
• NP_542411.2:p.Asp1650=
• NP_542411.2:p.Asp1650=
• NP_542412.2:p.Asp1564=
• NC_000006.11:g.33132164G>A
• NM_080680.2:c.4950C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs372110441

NCBI 1000 Genomes Browser:

rs372110441

Molecular consequence:

• NM_080679.3:c.4629C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080680.3:c.4950C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080681.3:c.4692C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1