ClinVar

NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)

Genes:

COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC101448202:uncharacterized LOC101448202 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 134835114 (on Assembly GRCh38)
• Chr9: 137726960 (on Assembly GRCh37)

Preferred name:

NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)

HGVS:

• NC_000009.12:g.134835114C>T
• NG_008030.1:g.198309C>T
• NM_000093.5:c.5280C>TMANE SELECT
• NM_001278074.1:c.5280C>T
• NP_000084.3:p.Tyr1760=
• NP_000084.3:p.Tyr1760=
• NP_001265003.1:p.Tyr1760=
• LRG_737t1:c.5280C>T
• LRG_737t2:c.5280C>T
• LRG_737:g.198309C>T
• LRG_737p1:p.Tyr1760=
• LRG_737p2:p.Tyr1760=
• NC_000009.11:g.137726960C>T
• NM_000093.3:c.5280C>T
• NM_000093.4:c.5280C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs767284056

NCBI 1000 Genomes Browser:

rs767284056

Molecular consequence:

• NM_000093.5:c.5280C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278074.1:c.5280C>T - synonymous variant - [Sequence Ontology: SO:0001819]