Variant (rsID / SNP)

rs79344818

rs79344818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBDS. Location: chromosome 7, position 66,453,476. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SBDSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:66453476
Cytoband: 7q11.21
HGVS: NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
Allele change: Missense_I212T

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.