Variant (rsID / SNP)

rs534237033

rs534237033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKIC3, TTC37. Location: chromosome 5, position 94,848,293. Clinical significance in the table: Pathogenic.

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Reference-table entries

SKIC3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:94848293
Cytoband: 5q15
HGVS: NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter)
Allele change: Nonsense_W936X

Associated conditions / phenotypes

Trichohepatoenteric syndrome 1

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.