ClinVar

NM_033380.3(COL4A5):c.81G>A (p.Ala27=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108440206 (on Assembly GRCh38)
• ChrX: 107683436 (on Assembly GRCh37)

Preferred name:

NM_033380.3(COL4A5):c.81G>A (p.Ala27=)

HGVS:

• NC_000023.11:g.108440206G>A
• NG_011977.2:g.5283G>A
• NG_012059.2:g.4269C>T
• NM_000495.5:c.81G>A
• NM_033380.3:c.81G>AMANE SELECT
• NP_000486.1:p.Ala27=
• NP_203699.1:p.Ala27=
• LRG_232t1:c.81G>A
• LRG_232t2:c.81G>A
• LRG_232:g.5283G>A
• LRG_232p1:p.Ala27=
• LRG_232p2:p.Ala27=
• LRG_233:g.4269C>T
• NC_000023.10:g.107683436G>A
• NG_011977.1:g.5283G>A
• NM_033380.1:c.81G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1569469478

NCBI 1000 Genomes Browser:

rs1569469478

Molecular consequence:

• NM_000495.5:c.81G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033380.3:c.81G>A - synonymous variant - [Sequence Ontology: SO:0001819]