ClinVar

NM_001851.5(COL9A1):c.902C>T (p.Pro301Leu)

Gene:

COL9A1:collagen type IX alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

• Chr6: 70281014 (on Assembly GRCh38)
• Chr6: 70990717 (on Assembly GRCh37)

Preferred name:

NM_001851.5(COL9A1):c.902C>T (p.Pro301Leu)

HGVS:

• NC_000006.12:g.70281014G>A
• NG_011654.1:g.27070C>T
• NM_001851.5:c.902C>T
• NM_078485.4:c.173C>T
• NP_001842.3:p.Pro301Leu
• NP_511040.2:p.Pro58Leu
• NC_000006.11:g.70990717G>A
• NM_001851.4:c.902C>T

This HGVS expression did not pass validation

Protein change:

P301L

Links:

dbSNP: rs192047082

NCBI 1000 Genomes Browser:

rs192047082

Molecular consequence:

• NM_001851.5:c.902C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_078485.4:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]