Variant (rsID / SNP)

rs11645288

rs11645288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SALL1. Location: chromosome 16, position 51,172,677. Clinical significance in the table: Benign.

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Reference-table entries

SALL1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:51172677
Cytoband: 16q12.1
HGVS: NM_002968.3(SALL1):c.3456C>T (p.His1152=)
Allele change: Synonymous_H1055H

Associated conditions / phenotypes

Townes syndrome|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.