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Variant (rsID / SNP)

rs149888762

TMEM231

rs149888762 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM231. Location: chromosome 16, position 75,573,952. 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
16:75573952
Cytoband
16q23.1
HGVS
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
Allele change
Synonymous_V297V

Associated conditions / phenotypes

Meckel syndrome, type 11|Joubert syndrome 20

Public references

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