ClinVar

NM_001379500.1(COL18A1):c.3787G>A (p.Asp1263Asn)

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: 45511204 (on Assembly GRCh38)
• Chr21: 46931118 (on Assembly GRCh37)

Preferred name:

NM_001379500.1(COL18A1):c.3787G>A (p.Asp1263Asn)

Other names:

NM_130445.2:c.3778G>A

HGVS:

• NC_000021.9:g.45511204G>A
• NG_011903.1:g.111013G>A
• NG_028278.2:g.56940C>T
• NM_001379500.1:c.3787G>AMANE SELECT
• NM_030582.4:c.4318G>A
• NM_130444.3:c.5023G>A
• NP_001366429.1:p.Asp1263Asn
• NP_085059.2:p.Asp1440Asn
• NP_569711.2:p.Asp1675Asn
• NC_000021.8:g.46931118G>A

This HGVS expression did not pass validation

Protein change:

D1263N

Links:

dbSNP: rs886057136

NCBI 1000 Genomes Browser:

rs886057136

Molecular consequence:

• NM_001379500.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_030582.4:c.4318G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_130444.3:c.5023G>A - missense variant - [Sequence Ontology: SO:0001583]