Table 1 Rare coding or structural variants identified within CRVEEH66 linkage regions that were assessed for validation and segregation.
From: A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
Structural variants | |||||||
Linkage region | Variant type | Genomic position (hg19) | Gene/s | Val | Seg | Freq. in controls | Database ID |
Xq24–25 | Deletion (127 kb) | NC_000023.10:g.118373226_118500408del | PGRMC1 LOC101928336 | Yes | Yes | 0% | ClinVar:SCV001450779 |
3q26.31–q26.32 | Tandem duplication (364 bp) | NC_000003.11:g.176236711_176237056dup | (intergenic) | Yes | Yes | 7.14% | ClinVar:SCV001450780 dbVar:nsv4651094 |
1q24.2–43 | Inversion (104 bp) | NC_000001.10:g.237566103_237566207inv | RYR2 | No | – | – | – |
1q24.2–43 | Complex distal duplication (363 bp) | NC_000001.10:g.240116680_240116681ins[GTGTGTGAG;240116016_240116379inv;CCAG] | (intergenic) | Yes | No | – | ClinVar:SCV001450781 gnomAD_SV_v2.1:CPX_1_410 |
SNPs and indels | |||||||
Linkage region | Gene | Genomic position (hg19) | Nucleotide change | Protein change | Val | Seg | Database ID |
1q24.2–43 | ERO1B NM_019891.4 | NC_000001.10:g.236399100 G > A | c.662 C > T | p.(Ala221Val) | Yes | Yes | ClinVar:SCV001450782 dbSNP:rs966390978 |
1q24.2–43 | RYR2 NM_001035.3 | NC_000001.10:g.237656318_237656318insC | c.1893_1894insC | p.(Leu631fs) | No | – | – |
3q26.31–q26.32 | NAALADL2 NM_207015.3 | NC_000003.11:g.175189416_175189417delinsA | c.1534-11_1534-10delinsA | – | Yes | No | ClinVar:SCV001450783 dbSNP:rs1553904048 |
