Variant (rsID / SNP)

rs449643

rs449643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKIC2, SKIV2L. Location: chromosome 6, position 31,936,679. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SKIC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:31936679
Cytoband: 6p21.33
HGVS: NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val)
Allele change: Missense_A1071V

Associated conditions / phenotypes

Trichohepatoenteric syndrome 2

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.