Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 97450 single nucleotide variant NM_006978.2(RNF113A):c.247T>A (p.Leu83Met) 386352357 MedGen:CN221809 X 119005330 119005330 A T 97450 single nucleotide variant NM_006978.2(RNF113A):c.247T>A (p.Leu83Met) 386352357 MedGen:CN221809 X 119871367 119871367 A T 190169 single nucleotide variant NM_006978.2(RNF113A):c.901C>T (p.Gln301Ter) 794726863 MedGen:CN231313,OMIM:300953 X 119004676 119004676 G A 190169 single nucleotide variant NM_006978.2(RNF113A):c.901C>T (p.Gln301Ter) 794726863 MedGen:CN231313,OMIM:300953 X 119870713 119870713 G A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000125352.5 RNF113A 300951