14
1489600015卢比[智人]- 变量类型:
- SNV公司
- 等位基因:
- C> T型[展示侧翼]
- 染色体:
- 22:43162849(GRCh38)
22:43558855(GRCh37)
- 标准SPDI:
- NC_000022.11:43162848:C:电话
- 基因:
- TSPO公司(瓦尔维尤)
- 功能后果:
- 错义变量、编码序列变量、非编码脚本变量
- 已验证:
- 按频率、按alfa、按簇
- 最大允许流量:
T=0./0(ALFA公司)T=0.000004/1(顶部) - HGVS:
NC_000022.11:g.43162849C>T,NC_000022.10:g.43558855C>T,NM_000714.6:c.368C>T,NM_000714.5:c.368C>T,NM_007311.3:c.87C>T,NR_046308.2:n.232C>T,NR_046308.1:n.277C>T,NM_007311.2:c.87C>T,XM_047441479.1:c.368C>T,NM_001256530.1:c.368C>T,NM_001256531.1:c.368C>T,NM_007311.1:c.87C>T,NP_000705.2:p.Thr123Ile,XP_047297435.1:p.Thr123Ile,NP_001243459.1:p.Thr123Ile,NP_001243460.1:p.Thr123Ile
17
1489199707卢比[智人]- 变量类型:
- SNV公司
- 等位基因:
- T> C类[展示侧翼]
- 染色体:
- 22:43152272(GRCh38)
22:43548278(GRCh37)
- 标准SPDI:
- NC_000022.11:43152271:电话:C
- 基因:
- TSPO公司(瓦尔维尤)
- 功能后果:
- 5_素数_UTR_变量,内含_变量
- 已验证:
- 按频率
- 最大允许流量:
C=0.000007/1(GnomAD)
- HGVS: