Variant (rsID / SNP)

rs199422216

rs199422216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPAL4. Location: chromosome 5, position 156,890,311. Clinical significance in the table: Pathogenic.

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Reference-table entries

NIPAL4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:156890311
Cytoband: 5q33.3
HGVS: NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter)
Allele change: Nonsense_R145X

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 6

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.