ClinVar

NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108626309 (on Assembly GRCh38)
• ChrX: 107869539 (on Assembly GRCh37)

Preferred name:

NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val)

HGVS:

• NC_000023.11:g.108626309G>T
• NG_011977.2:g.191386G>T
• NM_000495.5:c.3206G>T
• NM_033380.3:c.3206G>TMANE SELECT
• NP_000486.1:p.Gly1069Val
• NP_203699.1:p.Gly1069Val
• LRG_232t1:c.3206G>T
• LRG_232t2:c.3206G>T
• LRG_232:g.191386G>T
• LRG_232p1:p.Gly1069Val
• LRG_232p2:p.Gly1069Val
• NC_000023.10:g.107869539G>T
• NG_011977.1:g.191386G>T
• NM_000495.4:c.3206G>T

This HGVS expression did not pass validation

Protein change:

G1069V

Links:

dbSNP: rs281874712

NCBI 1000 Genomes Browser:

rs281874712

Molecular consequence:

• NM_000495.5:c.3206G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033380.3:c.3206G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2