Variant (rsID / SNP)

rs114914951

rs114914951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKIC3, TTC37. Location: chromosome 5, position 94,878,992. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SKIC3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:94878992
Cytoband: 5q15
HGVS: NM_014639.4(SKIC3):c.130G>A (p.Val44Ile)
Allele change: Missense_V44I

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.