Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 40274 single nucleotide variant NM_001160223.1(RNF170):c.595C>T (p.Arg199Cys) 397514478 MedGen:C1837015,OMIM:608984 8 42711484 42711484 G A 40274 single nucleotide variant NM_001160223.1(RNF170):c.595C>T (p.Arg199Cys) 397514478 MedGen:C1837015,OMIM:608984 8 42856341 42856341 G A 135605 single nucleotide variant NM_001160223.1(RNF170):c.640A>G (p.Ile214Val) 587780441 MedGen:C1837015,OMIM:608984 8 42711439 42711439 T C 135605 single nucleotide variant NM_001160223.1(RNF170):c.640A>G (p.Ile214Val) 587780441 MedGen:C1837015,OMIM:608984 8 42856296 42856296 T C 205015 single nucleotide variant NM_001160224.1(RNF170):c.490G>A (p.Gly164Arg) 797045006 MedGen:C1837015,OMIM:608984 8 42850904 42850904 C T 205015 single nucleotide variant NM_001160224.1(RNF170):c.490G>A (p.Gly164Arg) 797045006 MedGen:C1837015,OMIM:608984 8 42706047 42706047 C T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000120925.14 RNF170 614649