ClinVar

NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=)

Gene:

COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 45479907 (on Assembly GRCh38)
• Chr21: 46899821 (on Assembly GRCh37)

Preferred name:

NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=)

Other names:

NM_130445.2:c.1254C>T

HGVS:

• NC_000021.9:g.45479907C>T
• NG_011903.1:g.79725C>T
• NM_001379500.1:c.1254C>TMANE SELECT
• NM_030582.3:c.1794C>T
• NM_030582.4:c.1794C>T
• NM_130444.3:c.2499C>T
• NP_001366429.1:p.Asp418=
• NP_085059.2:p.Asp598=
• NP_569711.2:p.Asp833=
• NC_000021.8:g.46899821C>T
• p.Asp418Asp

This HGVS expression did not pass validation

Links:

dbSNP: rs368594049

NCBI 1000 Genomes Browser:

rs368594049

Molecular consequence:

• NM_001379500.1:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_030582.4:c.1794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130444.3:c.2499C>T - synonymous variant - [Sequence Ontology: SO:0001819]