Variant (rsID / SNP)

rs113993996

rs113993996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBDS. Location: chromosome 7, position 66,456,243. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SBDSUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:66456243
Cytoband: 7q11.21
HGVS: NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)
Allele change: Missense_R169C

Associated conditions / phenotypes

Shwachman-Diamond syndrome 1

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.