Variant (rsID / SNP)

rs200691042

rs200691042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAM161A. Location: chromosome 2, position 62,066,830. Clinical significance in the table: Pathogenic.

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Reference-table entries

FAM161APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:62066830
Cytoband: 2p15
HGVS: NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
Allele change: Silent

Associated conditions / phenotypes

Retinitis pigmentosa 28|Cone-rod dystrophy|Retinal dystrophy|Retinitis pigmentosa

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.