结果筛选器
1
1060499530卢比[智人]- 变量类型:
- SNV公司
- 等位基因:
- G> C类[展示侧翼]
- 染色体:
- 12:117227441(GRCh38)
12:117665246(GRCh37)
- 标准SPDI:
- NC_000012.12:117227440:G:C
- 基因:
- NOS1号(瓦尔维尤)
- 功能后果:
- coding_sequence_variant,停止获取
- 临床意义:
- 不确定重要性
- HGVS:
NC_000012.12:g.117227441G>C,NC_000012.11:g.117665246G>C,NG_011991.2:g.139337C>g,NM_000620.5:c.3606C>G,NM_000620.4:c.3606C>G,NM_001204218.2:c.3708C>G,NM_001204218.1:c.3708C>G,NM_001204213.2:c.2598C>G,NM_001204213.1:c.2598C>G,NM_001204214.2:c.2598C>G,NM_001204214.1:c.2598C>G,NP_000611.1:p.Tyr1202特,NP_001191147.1:p.Tyr1236Ter,NP_001191142.1:p.Tyr866Ter,NP_001191143.1:p.Tyr866Ter