ClinVar

NM_000093.5(COL5A1):c.-287G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 134641901 (on Assembly GRCh38)
• Chr9: 137533747 (on Assembly GRCh37)

Preferred name:

NM_000093.5(COL5A1):c.-287G>C

HGVS:

• NC_000009.12:g.134641901G>C
• NG_008030.1:g.5096G>C
• NM_000093.5:c.-287G>CMANE SELECT
• NM_001278074.1:c.-287G>C
• LRG_737t1:c.-287G>C
• LRG_737t2:c.-287G>C
• LRG_737:g.5096G>C
• NC_000009.11:g.137533747G>C
• NM_000093.4:c.-287G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs886063670

NCBI 1000 Genomes Browser:

rs886063670

Molecular consequence:

• NM_000093.5:c.-287G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001278074.1:c.-287G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]