ClinVar

NM_052867.4(NALCN):c.1047+136T>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q33.1

Genomic location:

• Chr13: 101291854 (on Assembly GRCh38)
• Chr13: 101944205 (on Assembly GRCh37)

Preferred name:

NM_052867.4(NALCN):c.1047+136T>G

HGVS:

• NC_000013.11:g.101291854A>C
• NG_053176.1:g.130353T>G
• NM_001350748.2:c.1047+136T>G
• NM_001350749.2:c.1047+136T>G
• NM_001350750.2:c.1047+136T>G
• NM_001350751.2:c.1047+136T>G
• NM_052867.4:c.1047+136T>GMANE SELECT
• NC_000013.10:g.101944205A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs554997

NCBI 1000 Genomes Browser:

rs554997

Molecular consequence:

• NM_001350748.2:c.1047+136T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350749.2:c.1047+136T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350750.2:c.1047+136T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350751.2:c.1047+136T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_052867.4:c.1047+136T>G - intron variant - [Sequence Ontology: SO:0001627]