ClinVar

NM_033380.3(COL4A5):c.1876G>A (p.Gly626Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108598798 (on Assembly GRCh38)
• ChrX: 107842028 (on Assembly GRCh37)

Preferred name:

NM_033380.3(COL4A5):c.1876G>A (p.Gly626Ser)

HGVS:

• NC_000023.11:g.108598798G>A
• NG_011977.2:g.163875G>A
• NM_000495.5:c.1876G>A
• NM_033380.3:c.1876G>AMANE SELECT
• NP_000486.1:p.Gly626Ser
• NP_203699.1:p.Gly626Ser
• LRG_232t1:c.1876G>A
• LRG_232t2:c.1876G>A
• LRG_232:g.163875G>A
• LRG_232p1:p.Gly626Ser
• LRG_232p2:p.Gly626Ser
• NC_000023.10:g.107842028G>A
• NC_000023.10:g.107842028G>A
• NG_011977.1:g.163875G>A
• NM_000495.4:c.1876G>A

This HGVS expression did not pass validation

Protein change:

G626S

Links:

dbSNP: rs747821323

NCBI 1000 Genomes Browser:

rs747821323

Molecular consequence:

• NM_000495.5:c.1876G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033380.3:c.1876G>A - missense variant - [Sequence Ontology: SO:0001583]