ClinVar

NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)

Gene:

COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

• Chr7: 94404580 (on Assembly GRCh38)
• Chr7: 94033892 (on Assembly GRCh37)

Preferred name:

NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)

HGVS:

• NC_000007.14:g.94404580C>T
• NG_007405.1:g.15020C>T
• NM_000089.4:c.304C>TMANE SELECT
• NP_000080.2:p.Pro102Ser
• NP_000080.2:p.Pro102Ser
• LRG_2t1:c.304C>T
• LRG_2:g.15020C>T
• LRG_2p1:p.Pro102Ser
• NC_000007.13:g.94033892C>T
• NM_000089.3:c.304C>T

This HGVS expression did not pass validation

Protein change:

P102S

Links:

dbSNP: rs189557655

NCBI 1000 Genomes Browser:

rs189557655

Molecular consequence:

• NM_000089.4:c.304C>T - missense variant - [Sequence Ontology: SO:0001583]