ClinVar

NM_006493.4(CLN5):c.*180C>T

Gene:

CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q22.3

Genomic location:

• Chr13: 77001149 (on Assembly GRCh38)
• Chr13: 77575284 (on Assembly GRCh37)

Preferred name:

NM_006493.4(CLN5):c.*180C>T

HGVS:

• NC_000013.11:g.77001149C>T
• NG_009064.1:g.14226C>T
• NM_001366624.2:c.*706C>T
• NM_006493.4:c.*180C>TMANE SELECT
• LRG_692t1:c.*180C>T
• LRG_692:g.14226C>T
• NC_000013.10:g.77575284C>T
• NM_006493.2:c.*180C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs700364

NCBI 1000 Genomes Browser:

rs700364

Molecular consequence:

• NM_001366624.2:c.*706C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_006493.4:c.*180C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]