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Variant (rsID / SNP)

rs202215735

TMEM231

rs202215735 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM231. Location: chromosome 16, position 75,590,017. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMEM231Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:75590017
Cytoband
16q23.1
HGVS
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
Allele change
Missense_A31T

Associated conditions / phenotypes

Joubert syndrome 20|Meckel syndrome, type 11

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.