ClinVar

NM_001379500.1(COL18A1):c.2727+20G>T

Genes:

COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 45504074 (on Assembly GRCh38)
• Chr21: 46923988 (on Assembly GRCh37)

Preferred name:

NM_001379500.1(COL18A1):c.2727+20G>T

HGVS:

• NC_000021.9:g.45504074G>T
• NG_011903.1:g.103892G>T
• NG_028278.2:g.64070C>A
• NM_001379500.1:c.2727+20G>TMANE SELECT
• NM_030582.4:c.3267+20G>T
• NM_130444.3:c.3972+20G>T
• NC_000021.8:g.46923988G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001379500.1:c.2727+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_030582.4:c.3267+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_130444.3:c.3972+20G>T - intron variant - [Sequence Ontology: SO:0001627]