ClinVar

NM_000093.5(COL5A1):c.-139G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 134642049 (on Assembly GRCh38)
• Chr9: 137533895 (on Assembly GRCh37)

Preferred name:

NM_000093.5(COL5A1):c.-139G>T

HGVS:

• NC_000009.12:g.134642049G>T
• NG_008030.1:g.5244G>T
• NM_000093.5:c.-139G>TMANE SELECT
• NM_001278074.1:c.-139G>T
• LRG_737t1:c.-139G>T
• LRG_737t2:c.-139G>T
• LRG_737:g.5244G>T
• NC_000009.11:g.137533895G>T
• NM_000093.4:c.-139G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs886063672

NCBI 1000 Genomes Browser:

rs886063672

Molecular consequence:

• NM_000093.5:c.-139G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001278074.1:c.-139G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]