Variant (rsID / SNP)

rs104894635

rs104894635 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD14, SGSH. Location: chromosome 17, position 78,187,614. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CARD14Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:78187614
Cytoband: 17q25.3
HGVS: NM_000199.5(SGSH):c.734G>A (p.Arg245His)
Allele change: Missense_R245H

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-A|Sanfilippo syndrome|Inborn genetic diseases|Mucopolysaccharidosis|Neurodegeneration

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.