ClinVar

NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)

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: 45504469 (on Assembly GRCh38)
• Chr21: 46924383 (on Assembly GRCh37)

Preferred name:

NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)

Other names:

NM_130445.2:c.2781C>T

HGVS:

• NC_000021.9:g.45504469C>T
• NG_011903.1:g.104287C>T
• NG_028278.2:g.63675G>A
• NM_001379500.1:c.2781C>TMANE SELECT
• NM_030582.4:c.3321C>T
• NM_130444.3:c.4026C>T
• NP_001366429.1:p.Pro927=
• NP_085059.2:p.Pro1107=
• NP_569711.2:p.Pro1342=
• NC_000021.8:g.46924383C>T
• NM_030582.3:c.3321C>T
• NM_130444.2:c.4026C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs11544970

NCBI 1000 Genomes Browser:

rs11544970

Molecular consequence:

• NM_001379500.1:c.2781C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_030582.4:c.3321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130444.3:c.4026C>T - synonymous variant - [Sequence Ontology: SO:0001819]