ClinVar

NM_033380.3(COL4A5):c.3426C>T (p.Pro1142=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108665559 (on Assembly GRCh38)
• ChrX: 107908789 (on Assembly GRCh37)

Preferred name:

NM_033380.3(COL4A5):c.3426C>T (p.Pro1142=)

HGVS:

• NC_000023.11:g.108665559C>T
• NG_011977.2:g.230636C>T
• NM_000495.5:c.3426C>T
• NM_033380.3:c.3426C>TMANE SELECT
• NP_000486.1:p.Pro1142=
• NP_203699.1:p.Pro1142=
• LRG_232t1:c.3426C>T
• LRG_232t2:c.3426C>T
• LRG_232:g.230636C>T
• LRG_232p1:p.Pro1142=
• LRG_232p2:p.Pro1142=
• NC_000023.10:g.107908789C>T
• NG_011977.1:g.230636C>T
• NM_000495.4:c.3426C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs780896516

NCBI 1000 Genomes Browser:

rs780896516

Molecular consequence:

• NM_000495.5:c.3426C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033380.3:c.3426C>T - synonymous variant - [Sequence Ontology: SO:0001819]