ClinVar

NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys)

Gene:

COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108695336 (on Assembly GRCh38)
• ChrX: 107938566 (on Assembly GRCh37)

Preferred name:

NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys)

HGVS:

• NC_000023.11:g.108695336C>T
• NG_011977.2:g.260413C>T
• NM_000495.5:c.4873C>T
• NM_033380.3:c.4891C>TMANE SELECT
• NP_000486.1:p.Arg1625Cys
• NP_203699.1:p.Arg1631Cys
• LRG_232t1:c.4873C>T
• LRG_232t2:c.4891C>T
• LRG_232:g.260413C>T
• LRG_232p1:p.Arg1625Cys
• LRG_232p2:p.Arg1631Cys
• NC_000023.10:g.107938566C>T
• NG_011977.1:g.260413C>T
• NM_033380.1:c.4891C>T
• NM_033380.2:c.4891C>T

This HGVS expression did not pass validation

Protein change:

R1625C

Links:

dbSNP: rs865842167

NCBI 1000 Genomes Browser:

rs865842167

Molecular consequence:

• NM_000495.5:c.4873C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033380.3:c.4891C>T - missense variant - [Sequence Ontology: SO:0001583]