ClinVar

NM_052867.4(NALCN):c.4906-3C>A

Genes:

NALCN-AS1:NALCN antisense RNA 1 [Gene - HGNC]
NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q32.3

Genomic location:

• Chr13: 101058059 (on Assembly GRCh38)
• Chr13: 101710411 (on Assembly GRCh37)

Preferred name:

NM_052867.4(NALCN):c.4906-3C>A

HGVS:

• NC_000013.11:g.101058059G>T
• NG_053176.1:g.364148C>A
• NM_001350748.2:c.4993-3C>A
• NM_001350749.2:c.4906-3C>A
• NM_001350750.2:c.4819-3C>A
• NM_001350751.2:c.4819-3C>A
• NM_052867.2:c.4906-3C>A
• NM_052867.4:c.4906-3C>AMANE SELECT
• NC_000013.10:g.101710411G>T
• NR_047687.1:n.1619G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1203141133

NCBI 1000 Genomes Browser:

rs1203141133

Molecular consequence:

• NM_001350748.2:c.4993-3C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350749.2:c.4906-3C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350750.2:c.4819-3C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350751.2:c.4819-3C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_052867.4:c.4906-3C>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_047687.1:n.1619G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]