ClinVar

NM_052867.4(NALCN):c.915C>A (p.Leu305=)

Gene:

NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q33.1

Genomic location:

• Chr13: 101292251 (on Assembly GRCh38)
• Chr13: 101944602 (on Assembly GRCh37)

Preferred name:

NM_052867.4(NALCN):c.915C>A (p.Leu305=)

HGVS:

• NC_000013.11:g.101292251G>T
• NG_053176.1:g.129956C>A
• NM_001350748.2:c.915C>A
• NM_001350749.2:c.915C>A
• NM_001350750.2:c.915C>A
• NM_001350751.2:c.915C>A
• NM_052867.4:c.915C>AMANE SELECT
• NP_001337677.1:p.Leu305=
• NP_001337678.1:p.Leu305=
• NP_001337679.1:p.Leu305=
• NP_001337680.1:p.Leu305=
• NP_443099.1:p.Leu305=
• NC_000013.10:g.101944602G>T
• NM_052867.2:c.915C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs367869895

NCBI 1000 Genomes Browser:

rs367869895

Molecular consequence:

• NM_001350748.2:c.915C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350749.2:c.915C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350750.2:c.915C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350751.2:c.915C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052867.4:c.915C>A - synonymous variant - [Sequence Ontology: SO:0001819]