Variant (rsID / SNP)

rs201036290

rs201036290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM231. Location: chromosome 16, position 75,579,362. Clinical significance in the table: Likely benign.

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Reference-table entries

TMEM231Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:75579362
Cytoband: 16q23.1
HGVS: NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val)
Allele change: Missense_A157V

Associated conditions / phenotypes

Meckel syndrome, type 11|Joubert syndrome 20

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.