ClinVar

NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108695340 (on Assembly GRCh38)
• ChrX: 107938570 (on Assembly GRCh37)

Preferred name:

NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu)

HGVS:

• NC_000023.11:g.108695340C>T
• NG_011977.2:g.260417C>T
• NM_000495.5:c.4877C>T
• NM_033380.3:c.4895C>TMANE SELECT
• NP_000486.1:p.Ser1626Leu
• NP_203699.1:p.Ser1632Leu
• LRG_232t1:c.4877C>T
• LRG_232t2:c.4895C>T
• LRG_232:g.260417C>T
• LRG_232p1:p.Ser1626Leu
• LRG_232p2:p.Ser1632Leu
• NC_000023.10:g.107938570C>T
• NG_011977.1:g.260417C>T
• NM_000495.4:c.4877C>T

This HGVS expression did not pass validation

Protein change:

S1626L

Links:

dbSNP: rs1556463567

NCBI 1000 Genomes Browser:

rs1556463567

Molecular consequence:

• NM_000495.5:c.4877C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033380.3:c.4895C>T - missense variant - [Sequence Ontology: SO:0001583]