Variant (rsID / SNP)

rs199605221

rs199605221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM231. Location: chromosome 16, position 75,574,052. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TMEM231Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:75574052
Cytoband: 16q23.1
HGVS: NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)
Allele change: Missense_E264A

Associated conditions / phenotypes

Joubert syndrome 20|Meckel syndrome, type 11

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.