Variant (rsID / SNP)

rs148648401

rs148648401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKIC3, TTC37. Location: chromosome 5, position 94,860,194. Clinical significance in the table: Benign.

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Reference-table entries

SKIC3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:94860194
Cytoband: 5q15
HGVS: NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg)
Allele change: Missense_T476R

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.