Variant (rsID / SNP)

rs200467447

rs200467447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM237. Location: chromosome 2, position 202,494,495. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TMEM237Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:202494495
Cytoband: 2q33.1
HGVS: NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg)
Allele change: Missense_W212R

Associated conditions / phenotypes

Joubert syndrome 14

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.