ClinVar

NM_017882.3(CLN6):c.542+1G>T

Gene:

CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

• Chr15: 68211262 (on Assembly GRCh38)
• Chr15: 68503600 (on Assembly GRCh37)

Preferred name:

NM_017882.3(CLN6):c.542+1G>T

HGVS:

• NC_000015.10:g.68211262C>A
• NG_008764.2:g.50950G>T
• NG_131414.1:g.165C>A
• NM_001411068.1:c.638+1G>T
• NM_017882.3:c.542+1G>TMANE SELECT
• LRG_832t1:c.542+1G>T
• LRG_832:g.50950G>T
• NC_000015.9:g.68503600C>A
• NM_017882.2:c.542+1G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555438614

NCBI 1000 Genomes Browser:

rs1555438614

Molecular consequence:

• NM_001411068.1:c.638+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_017882.3:c.542+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]