Variant (rsID / SNP)

rs36038685

rs36038685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKIC2, SKIV2L. Location: chromosome 6, position 31,929,737. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SKIC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:31929737
Cytoband: 6p21.33
HGVS: NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp)
Allele change: Missense_R324W

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.