ClinVar

NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q33.1

Genomic location:

• Chr13: 101107571 (on Assembly GRCh38)
• Chr13: 101759922 (on Assembly GRCh37)

Preferred name:

NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)

HGVS:

• NC_000013.11:g.101107571T>C
• NG_053176.1:g.314636A>G
• NM_001350748.2:c.2582A>G
• NM_001350749.2:c.2495A>G
• NM_001350750.2:c.2408A>G
• NM_001350751.2:c.2408A>G
• NM_052867.4:c.2495A>GMANE SELECT
• NP_001337677.1:p.Tyr861Cys
• NP_001337678.1:p.Tyr832Cys
• NP_001337679.1:p.Tyr803Cys
• NP_001337680.1:p.Tyr803Cys
• NP_443099.1:p.Tyr832Cys
• NC_000013.10:g.101759922T>C
• NC_000013.10:g.101759922T>C
• NM_052867.2:c.2495A>G

This HGVS expression did not pass validation

Protein change:

Y803C

Links:

dbSNP: rs549182297

NCBI 1000 Genomes Browser:

rs549182297

Molecular consequence:

• NM_001350748.2:c.2582A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350749.2:c.2495A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350750.2:c.2408A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350751.2:c.2408A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_052867.4:c.2495A>G - missense variant - [Sequence Ontology: SO:0001583]