Variant (rsID / SNP)

rs149302006

rs149302006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SALL1. Location: chromosome 16, position 51,171,204. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SALL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:51171204
Cytoband: 16q12.1
HGVS: NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)
Allele change: Missense_G1168E

Associated conditions / phenotypes

Townes-Brocks syndrome 1|Townes syndrome

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.