ClinVar

NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His)

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: 45512229 (on Assembly GRCh38)
• Chr21: 46932143 (on Assembly GRCh37)

Preferred name:

NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His)

HGVS:

• NC_000021.9:g.45512229G>A
• NG_011903.1:g.112038G>A
• NG_028278.2:g.55915C>T
• NM_001379500.1:c.3851G>AMANE SELECT
• NM_030582.3:c.4382G>A
• NM_030582.4:c.4382G>A
• NM_130444.3:c.5087G>A
• NP_001366429.1:p.Arg1284His
• NP_085059.2:p.Arg1461His
• NP_569711.2:p.Arg1696His
• NC_000021.8:g.46932143G>A

This HGVS expression did not pass validation

Protein change:

R1284H

Links:

dbSNP: rs202049650

NCBI 1000 Genomes Browser:

rs202049650

Molecular consequence:

• NM_001379500.1:c.3851G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_030582.4:c.4382G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_130444.3:c.5087G>A - missense variant - [Sequence Ontology: SO:0001583]