ClinVar

NM_052867.4(NALCN):c.816C>T (p.Thr272=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q33.1

Genomic location:

• Chr13: 101292350 (on Assembly GRCh38)
• Chr13: 101944701 (on Assembly GRCh37)

Preferred name:

NM_052867.4(NALCN):c.816C>T (p.Thr272=)

HGVS:

• NC_000013.11:g.101292350G>A
• NG_053176.1:g.129857C>T
• NM_001350748.2:c.816C>T
• NM_001350749.2:c.816C>T
• NM_001350750.2:c.816C>T
• NM_001350751.2:c.816C>T
• NM_052867.4:c.816C>TMANE SELECT
• NP_001337677.1:p.Thr272=
• NP_001337678.1:p.Thr272=
• NP_001337679.1:p.Thr272=
• NP_001337680.1:p.Thr272=
• NP_443099.1:p.Thr272=
• NC_000013.10:g.101944701G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001350748.2:c.816C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350749.2:c.816C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350750.2:c.816C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350751.2:c.816C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052867.4:c.816C>T - synonymous variant - [Sequence Ontology: SO:0001819]