Variant (rsID / SNP)

rs864621971

rs864621971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SALL1. Location: chromosome 16, position 51,175,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SALL1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:51175184
Cytoband: 16q12.1
HGVS: NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)
Allele change: Missense_P220S

Associated conditions / phenotypes

Townes-Brocks 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.