ClinVar

NM_002340.6(LSS):c.1988+236A>G

Gene:

LSS:lanosterol synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46194255 (on Assembly GRCh38)
• Chr21: 47614169 (on Assembly GRCh37)

Preferred name:

NM_002340.6(LSS):c.1988+236A>G

HGVS:

• NC_000021.9:g.46194255T>C
• NG_011510.1:g.39570A>G
• NM_001001438.3:c.1988+236A>G
• NM_001145436.2:c.1955+236A>G
• NM_001145437.2:c.1748+236A>G
• NM_002340.6:c.1988+236A>GMANE SELECT
• NC_000021.8:g.47614169T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs79223895

NCBI 1000 Genomes Browser:

rs79223895

Molecular consequence:

• NM_001001438.3:c.1988+236A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001145436.2:c.1955+236A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001145437.2:c.1748+236A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_002340.6:c.1988+236A>G - intron variant - [Sequence Ontology: SO:0001627]