ClinVar

NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)

Gene:

COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.11

Genomic location:

• Chr12: 47992897 (on Assembly GRCh38)
• Chr12: 48386680 (on Assembly GRCh37)

Preferred name:

NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)

HGVS:

• NC_000012.12:g.47992897G>C
• NG_008072.1:g.16606C>G
• NM_001844.5:c.1004C>GMANE SELECT
• NM_033150.3:c.797C>G
• NP_001835.3:p.Thr335Ser
• NP_149162.2:p.Thr266Ser
• NC_000012.11:g.48386680G>C
• NM_001844.4:c.1004C>G

This HGVS expression did not pass validation

Protein change:

T266S

Links:

dbSNP: rs755043901

NCBI 1000 Genomes Browser:

rs755043901

Molecular consequence:

• NM_001844.5:c.1004C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_033150.3:c.797C>G - missense variant - [Sequence Ontology: SO:0001583]