Variant (rsID / SNP)

rs73989521

rs73989521 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM237. Location: chromosome 2, position 202,490,812. Clinical significance in the table: Benign.

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Reference-table entries

TMEM237Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:202490812
Cytoband: 2q33.1
HGVS: NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
Allele change: Missense_A366S

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.