ClinVar

NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del)

Gene:

COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 188998720 (on Assembly GRCh38)
• Chr2: 189863446 (on Assembly GRCh37)

Preferred name:

NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del)

HGVS:

• NC_000002.12:g.188998720T>C
• NG_007404.1:g.29348T>C
• NM_000090.3:c.2022+2T>C
• NP_000081.1:p.Gly660_Lys674del
• LRG_3t1:c.2022+2T>C
• LRG_3:g.29348T>C
• LRG_3p1:p.Gly660_Lys674del
• NC_000002.11:g.189863446T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs587779429

NCBI 1000 Genomes Browser:

rs587779429

Molecular consequence:

• NM_000090.3:c.2022+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

2