ClinVar

NM_033380.3(COL4A5):c.4321C>T (p.Arg1441Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108687487 (on Assembly GRCh38)
• ChrX: 107930717 (on Assembly GRCh37)

Preferred name:

NM_033380.3(COL4A5):c.4321C>T (p.Arg1441Cys)

HGVS:

• NC_000023.11:g.108687487C>T
• NG_011977.2:g.252564C>T
• NM_000495.5:c.4303C>T
• NM_033380.3:c.4321C>TMANE SELECT
• NP_000486.1:p.Arg1435Cys
• NP_203699.1:p.Arg1441Cys
• LRG_232t1:c.4303C>T
• LRG_232t2:c.4321C>T
• LRG_232:g.252564C>T
• LRG_232p1:p.Arg1435Cys
• LRG_232p2:p.Arg1441Cys
• NC_000023.10:g.107930717C>T

This HGVS expression did not pass validation

Protein change:

R1435C

Molecular consequence:

• NM_000495.5:c.4303C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033380.3:c.4321C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1