Variant (rsID / SNP)

rs387907132

rs387907132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM138. Location: chromosome 11, position 61,133,675. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TMEM138Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:61133675
Cytoband: 11q12.2
HGVS: NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
Allele change: Missense_H96R

Associated conditions / phenotypes

Joubert syndrome 16

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.