Variant (rsID / SNP)

rs786203988

rs786203988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NALCN. Location: chromosome 13, position 101,844,299. Clinical significance in the table: Pathogenic.

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Reference-table entries

NALCNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:101844299
Cytoband: 13q33.1
HGVS: NM_052867.4(NALCN):c.1733A>C (p.Tyr578Ser)
Allele change: Missense_Y549S

Associated conditions / phenotypes

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.