Variant (rsID / SNP)

rs2734331

rs2734331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKIC2, SKIV2L. Location: chromosome 6, position 31,930,351. Clinical significance in the table: Benign.

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Reference-table entries

SKIC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:31930351
Cytoband: 6p21.33
HGVS: NM_006929.5(SKIC2):c.1200A>G (p.Thr400=)
Allele change: Synonymous_T400T

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.