Table 1 Identified variations from the patient with CHS
From: Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
Variation | Location | Peptide change | Type | Zygosity | ID in dbSNP | Allele Frequency in gnomAD |
|---|---|---|---|---|---|---|
NM_000081.2: c.5719A > G | Chr1:235937207 | p.Ile1907Val | missense | Heterozygous | not applicable | not applicable |
NC_000001.10: g.235945391C > T | Chr1: 235945391 | p.= | intron | Heterozygous | rs201382097 | 0.0006894 |
NM_003664.3: c.1754 T > A | Chr5:77425028 | p.Val585Glu | missense | Heterozygous | rs6453373 | 0.8668 |
NM_001083116.1: c.900C > T | Chr10:72358577 | p.= | synonymous | Heterozygous | rs885822 | 0.6403 |
NM_199242.2: c.3198A > G | Chr17:73824121 | p.= | synonymous | Heterozygous | rs7210574 | 0.3966 |
NM_199242.2: c.2599A > G | Chr17:73827205 | p.Lys867Glu | missense | Heterozygous | rs1135688 | 0.3626 |
NM_199242.2: c.1977C > T | Chr17:73831016 | p.= | synonymous | Heterozygous | rs2290770 | 0.02977 |
NM_199242.2: c.888G > C | Chr17:73836162 | p.= | synonymous | Heterozygous | rs3744026 | 0.1496 |
NM_199242.2: c.279C > T | Chr17:73839137 | p.= | synonymous | Heterozygous | rs3744007 | 0.04832 |
NM_006949.2: c.38-7C > T | Chr19:7703605 | p.= | intron | Heterozygous | rs8104339 | 0.4047 |
NM_006949.2: c.1443 T > C | Chr19:7711221 | p.= | synonymous | Heterozygous | rs10001 | 0.4204 |
NM_006949.2: c.1576A > G | Chr19:7712277 | p.Ile526Val | missense | Heterozygous | rs6791 | 0.6401 |
NM_001204401.1: c.1268A > C | ChrX:123034511 | p.Gln423Pro | missense | Heterozygous | rs5956583 | 0.3378 |