Variant (rsID / SNP)

rs1805078

rs1805078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALC. Location: chromosome 14, position 88,450,770. Clinical significance in the table: Benign; other.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GALCBenign

Clinical significance (as recorded): Benign; other
Variant type: single nucleotide variant
Chromosome / position: 14:88450770
Cytoband: 14q31.3
HGVS: NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
Allele change: Missense_R161C

Associated conditions / phenotypes

Galactosylceramide beta-galactosidase deficiency

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.