From: In silico prediction of HBD gene variants in the Iranian population
Variant genomic position/rs ID | Transcript/protein consequence | ClinVar | Ethnicity | Reported in ITHANET | Reported in HbVar | Exon/intron | Allele frequency (%) |
---|---|---|---|---|---|---|---|
11:5254244 G/C | c.394C>G/p.Gln132Glu | NR | Kurd | Yes/causative | Yes | Exon 3 | 1/1600 (0.06) |
11:5254398 A/G (rs200027473) | c.316-76 T>C | NR | Turkmen | No | No | Intron 2 | 1/1600 (0.06) |
11:5255166 C/A (rs1589897475) | c.315+55G>T | NR | Azeri | No | No | Intron 2 | 1/1600 (0.06) |
11:5255377 A/C (rs757106601) | c.159 T>G/p.Asp53Glu | NR | Arab | No | No | Exon 2 | 1/1600 (0.06) |
11:5255477 G/A (rs149402829) | c.93-34C>T | NR | Azeri | No | No | Intron 1 | 1/1600 (0.06) |
11:5255529 T/C | c.92+43A>G | NR | Kurd | No | No | Intron 1 | 1/1600 (0.06) |
11:5255574 G/A (rs1223305519) | c.90C>T/p.Gly30= | NR | Arab | No | No | Exon 1 | 1/1600 (0.06) |
11:5255615 C/G (rs34012192) | c.49G>C/p.Gly17Arg | Other | Persian Gulf Islander | Yes/causative | Yes | Exon 1 | 1/1600 (0.06) |
11:5254402 C/T (rs374210782) | c.316-80G>A | NR | Baloch | No | No | Intron 2 | 2/1598 (0.13) |
11:5254424 T/C (rs73400693) | c.316-102A>G | NR | Baloch, Persian Gulf Islander | No | No | Intron 2 | 2/1590 (0.13) |
11:5255022 T/C (rs181334077) | c.315+199A>G | NR | Baloch | No | No | Intron 2 | 1/716 (0.14) |
11:5255075 A/C (rs77044643) | c.315+146T>G | NR | Baloch, Persian Gulf Islander | No | No | Intron 2 | 2/1118 (0.18) |
11:5254354 A/G (rs73400692) | c.316-32T>C | NR | Baloch, Persian Gulf Islander, Turkmen | No | No | Intron 2 | 3/1600 (0.19) |
11:5255650 G/A (rs35406175) | c.14C>T/p.Thr5Ile | Uncertain significance | Multiple | Yes/causative | No | Exon 1 | 6/1600 (0.38) |
11:5255242 G/A (rs61746501) | c.294C>T/p.His98= | Benign | Multiple | No | No | Exon 2 | 9/1600 (0.56) |
11:5255582 C/A (rs35152987) | c.82G>T/p.Ala28Ser | Conflicting interpretations | Multiple | Yes/causative | Yes | Exon 1 | 9/1600 (0.56) |