ClinVar

NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)

Gene:

COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 134750815 (on Assembly GRCh38)
• Chr9: 137642661 (on Assembly GRCh37)

Preferred name:

NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)

Other names:

p.A532V:GCG>GTG

HGVS:

• NC_000009.12:g.134750815C>T
• NG_008030.1:g.114010C>T
• NM_000093.5:c.1595C>TMANE SELECT
• NM_001278074.1:c.1595C>T
• NP_000084.3:p.Ala532Val
• NP_000084.3:p.Ala532Val
• NP_001265003.1:p.Ala532Val
• LRG_737t1:c.1595C>T
• LRG_737t2:c.1595C>T
• LRG_737:g.114010C>T
• LRG_737p1:p.Ala532Val
• LRG_737p2:p.Ala532Val
• NC_000009.11:g.137642661C>T
• NM_000093.3:c.1595C>T
• NM_000093.4:c.1595C>T

This HGVS expression did not pass validation

Protein change:

A532V

Links:

dbSNP: rs369000939

NCBI 1000 Genomes Browser:

rs369000939

Molecular consequence:

• NM_000093.5:c.1595C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278074.1:c.1595C>T - missense variant - [Sequence Ontology: SO:0001583]