Links from Gene
Items: 1 to 20 of 1000
1.
rs1491584532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-,CGCG
[Show Flanks]
- Chromosome:
- 14:104872349
(GRCh38)
14:105338686
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104872347:GCG:G,NC_000014.9:104872347:GCG:GCGCG
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GCGCG=0./0
(
ALFA)
-=0.000025/3
(GnomAD)
- HGVS:
3.
rs1491278827 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 14:104872121
(GRCh38)
14:105338458
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104872119:GCG:G
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
-=0.000093/13
(GnomAD)
- HGVS:
5.
rs1490910355 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AATGGATG>-
[Show Flanks]
- Chromosome:
- 14:104889953
(GRCh38)
14:105356290
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104889945:ATGGATGAATGGATG:ATGGATG
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATGGATG=0.0188/223
(
ALFA)
-=0.00007/1
(TOMMO)
-=0.02128/1369
(GnomAD)
- HGVS:
6.
rs1490886695 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 14:104867110
(GRCh38)
14:105333447
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104867109:TTTTT:TTTT
- Gene:
- CEP170B (Varview), LOC124903397 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTT=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490876944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:104864989
(GRCh38)
14:105331326
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104864988:A:C,NC_000014.9:104864988:A:G
- Gene:
- CEP170B (Varview), MIR12121 (Varview), LOC124903397 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
8.
rs1490795243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:104892818
(GRCh38)
14:105359155
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104892817:C:T
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490770301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:104891891
(GRCh38)
14:105358228
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104891890:C:T
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490734879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:104886329
(GRCh38)
14:105352666
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104886328:T:C
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000012/2
(GnomAD_exomes)
C=0.000014/2
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
NC_000014.9:g.104886329T>C, NC_000014.8:g.105352666T>C, XM_005267550.5:c.2090T>C, XM_005267550.4:c.2090T>C, XM_005267550.3:c.2090T>C, XM_005267550.2:c.2090T>C, XM_005267550.1:c.2090T>C, XM_011536666.3:c.2090T>C, XM_011536666.2:c.2090T>C, XM_011536666.1:c.2090T>C, XM_011536665.3:c.2090T>C, XM_011536665.2:c.2090T>C, XM_011536665.1:c.2090T>C, NM_001112726.3:c.2090T>C, NM_001112726.2:c.2090T>C, NM_015005.3:c.1880T>C, NM_015005.2:c.1880T>C, XM_011536667.3:c.353T>C, XM_011536667.2:c.353T>C, XM_011536667.1:c.353T>C, XM_017021227.2:c.2318T>C, XM_017021227.1:c.2318T>C, XM_017021228.2:c.2318T>C, XM_017021228.1:c.2318T>C, XM_017021229.2:c.2398T>C, XM_017021229.1:c.2398T>C, XM_017021230.2:c.2335T>C, XM_017021230.1:c.2335T>C, XM_047431286.1:c.2090T>C, XM_047431287.1:c.2090T>C, XP_005267607.1:p.Met697Thr, XP_011534968.1:p.Met697Thr, XP_011534967.1:p.Met697Thr, NP_001106197.1:p.Met697Thr, NP_055820.2:p.Met627Thr, XP_011534969.1:p.Met118Thr, XP_016876716.1:p.Met773Thr, XP_016876717.1:p.Met773Thr, XP_016876718.1:p.Cys800Arg, XP_016876719.1:p.Cys779Arg, XP_047287242.1:p.Met697Thr, XP_047287243.1:p.Met697Thr
11.
rs1490488685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:104864249
(GRCh38)
14:105330586
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104864248:G:C
- Gene:
- CEP170B (Varview), MIR12121 (Varview), LOC124903397 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490445745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:104893194
(GRCh38)
14:105359531
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104893193:C:G
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490439017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:104875427
(GRCh38)
14:105341764
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104875426:C:T
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490395226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:104868230
(GRCh38)
14:105334567
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104868229:G:A
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490179933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:104876236
(GRCh38)
14:105342573
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104876235:C:G,NC_000014.9:104876235:C:T
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490164989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:104865040
(GRCh38)
14:105331377
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104865039:G:C
- Gene:
- CEP170B (Varview), MIR12121 (Varview), LOC124903397 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490142746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:104890317
(GRCh38)
14:105356654
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104890316:G:A
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00016/3
(TOMMO)
- HGVS:
19.
rs1490028152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:104864121
(GRCh38)
14:105330458
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104864120:G:C
- Gene:
- CEP170B (Varview), MIR12121 (Varview), LOC124903397 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489957422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:104877329
(GRCh38)
14:105343666
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104877328:C:T
- Gene:
- CEP170B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS: