Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) | RNF213 | Pathogenic | 17 | 78341825 | 78341825 | G | A | criteria provided, single submitter | ClinGen:CA130465,OMIM:613768.0003 |