Table 1.
Summary of the RNF213 variants found in the European family with MMD
| Variant 1 | Variant 2 | |
|---|---|---|
| Position (GRCh38) | chr17:80,372,536 | chr17:80,372,545 |
| Variant consequences | Missense | Missense |
| Variant genotype | Heterozygous | Heterozygous |
| cDNA change | c.12553A>G (NM_001256071.2) | c.12562G>A (NM_001256071.2) |
| Protein change | p.(Lys4185Glu) (NP_001243000.2) | p.(Ala4188Thr) (NP_001243000.2) |
| Transcript length | 21,062 bp (NM_001256071.2) | 21,062 bp (NM_001256071.2) |
| Protein length | 5,207 aa (NP_001243000.2) | 5,207 aa (NP_001243000.2) |
| Exon/exons in transcript | 48/68 (NM_001256071.2) | 48/68 (NM_001256071.2) |
| Allele frequency in public databases: | ||
| ExAC/gnomAD | 0 | 0 |
| 1000 Genomes | 0 | 0 |
| NHLBI ESP | 0 | 0 |
| Presence in dbSNP | Not present | Not present |
| Variant classification | Likely pathogenic | Uncertain significance |
| ClinVar accession | SCV000839587 | SCV000839588 |