Variant (rsID / SNP)

rs199753304

rs199753304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA5. Location: chromosome 17, position 67,249,934. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCA5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:67249934
Cytoband: 17q24.3
HGVS: NM_172232.4(ABCA5):c.4320+1G>C
Allele change: Silent

Associated conditions / phenotypes

Gingival fibromatosis-hypertrichosis syndrome|Inborn genetic diseases

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.