ClinVar

NM_002340.6(LSS):c.2196C>G (p.Pro732=)

Gene:

LSS:lanosterol synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46191107 (on Assembly GRCh38)
• Chr21: 47611021 (on Assembly GRCh37)

Preferred name:

NM_002340.6(LSS):c.2196C>G (p.Pro732=)

HGVS:

• NC_000021.9:g.46191107G>C
• NG_011510.1:g.42718C>G
• NM_001001438.3:c.2196C>G
• NM_001145436.2:c.2163C>G
• NM_001145437.2:c.1956C>G
• NM_002340.6:c.2196C>GMANE SELECT
• NP_001001438.1:p.Pro732=
• NP_001138908.1:p.Pro721=
• NP_001138909.1:p.Pro652=
• NP_002331.3:p.Pro732=
• NC_000021.8:g.47611021G>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001001438.3:c.2196C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145436.2:c.2163C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145437.2:c.1956C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002340.6:c.2196C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1