Total 2 pathogenic variants reported for Naegeli-Franceschetti-Jadassohn syndrome
Single Nucleotide Variant (1)
Deletion (1)
Variant Name
Variant Type
Variant Genomic Location
Clinical Significance
Phenotype Condition
Review Status
ClinGen Allele
dbSNP ID
Variation/condition record
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)
SNV
Germline
Chr17:41586816
Pathogenic
Condition: not provided
Naegeli-Franceschetti-Jadassohn syndrome
No Assertion Criteria Provided
CA216885
rs_267607391
2 Submitters
RCV000056699
RCV000415603