Variant (rsID / SNP)

rs199823175

rs199823175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIX3. Location: chromosome 2, position 45,169,352. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SIX3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:45169352
Cytoband: 2p21
HGVS: NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)
Allele change: Missense_G37C

Associated conditions / phenotypes

Holoprosencephaly 2|Schizencephaly|Solitary median maxillary central incisor 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.