Variant (rsID / SNP)

rs17677552

rs17677552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NALCN. Location: chromosome 13, position 101,735,211. Clinical significance in the table: Benign.

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Reference-table entries

NALCNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:101735211
Cytoband: 13q32.3
HGVS: NM_052867.4(NALCN):c.3714C>T (p.Thr1238=)
Allele change: Synonymous_T1209T

Associated conditions / phenotypes

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1|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.