ClinVar

NM_080680.3(COL11A2):c.4990C>T (p.Leu1664=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33164347 (on Assembly GRCh38)
• Chr6: 33132124 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.4990C>T (p.Leu1664=)

HGVS:

• NC_000006.12:g.33164347G>A
• NG_011589.1:g.33122C>T
• NG_107844.1:g.548G>A
• NM_001424108.1:c.4810C>T
• NM_001424109.1:c.4144C>T
• NM_001424110.1:c.3964C>T
• NM_001424111.1:c.3964C>T
• NM_001424112.1:c.2944C>T
• NM_080679.3:c.4669C>T
• NM_080680.3:c.4990C>TMANE SELECT
• NM_080681.3:c.4732C>T
• NP_001411037.1:p.Leu1604=
• NP_001411038.1:p.Leu1382=
• NP_001411039.1:p.Leu1322=
• NP_001411040.1:p.Leu1322=
• NP_001411041.1:p.Leu982=
• NP_542410.2:p.Leu1557=
• NP_542411.2:p.Leu1664=
• NP_542412.2:p.Leu1578=
• NC_000006.11:g.33132124G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001424108.1:c.4810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424109.1:c.4144C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424110.1:c.3964C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424111.1:c.3964C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424112.1:c.2944C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080679.3:c.4669C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080680.3:c.4990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080681.3:c.4732C>T - synonymous variant - [Sequence Ontology: SO:0001819]