ClinVar

NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)

Gene:

COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 189048232 (on Assembly GRCh38)
• Chr2: 189912958 (on Assembly GRCh37)

Preferred name:

NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)

Other names:

p.R1060W:CGG>TGG

HGVS:

• NC_000002.12:g.189048232G>A
• NG_011799.3:g.182070C>T
• NM_000393.5:c.3178C>TMANE SELECT
• NP_000384.2:p.Arg1060Trp
• LRG_738t1:c.3178C>T
• LRG_738:g.182070C>T
• LRG_738p1:p.Arg1060Trp
• NC_000002.11:g.189912958G>A
• NG_011799.2:g.136648C>T
• NM_000393.3:c.3178C>T
• NM_000393.4:c.3178C>T
• p.Arg1060Trp

This HGVS expression did not pass validation

Protein change:

R1060W

Links:

dbSNP: rs374549843

NCBI 1000 Genomes Browser:

rs374549843

Molecular consequence:

• NM_000393.5:c.3178C>T - missense variant - [Sequence Ontology: SO:0001583]