Links from Gene
Items: 1 to 20 of 1201
1.
rs1491516319 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACCCCC
[Show Flanks]
- Chromosome:
- 17:7479652
(GRCh38)
17:7382972
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7479652:ACCCCCACCCCCACCCCC:ACCCCCACCCCCACCCCCACCCCC
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACCCCCACCCCCACCCCCACCCCC=0./0
(
ALFA)
- HGVS:
4.
rs1491265259 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 17:7480065
(GRCh38)
17:7383384
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7480064:GA:
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490024321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:7482222
(GRCh38)
17:7385541
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7482221:C:T
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489787713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:7481277
(GRCh38)
17:7384596
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7481276:A:G
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
7.
rs1488718317 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GGGGG
[Show Flanks]
- Chromosome:
- 17:7482917
(GRCh38)
17:7386236
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7482916:GGGGG:GGGG,NC_000017.11:7482916:GGGGG:GGGGGGGGG
- Gene:
- POLR2A (Varview), ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by cluster
- HGVS:
NC_000017.11:g.7482921del, NC_000017.11:g.7482918_7482921dup, NC_000017.10:g.7386240del, NC_000017.10:g.7386237_7386240dup, NG_027747.2:g.3543del, NG_027747.2:g.3540_3543dup, NW_016107299.1:g.103378del, NW_016107299.1:g.103375_103378dup, NM_001102614.2:c.937del, NM_001102614.2:c.934_937dup, NM_001102614.1:c.937del, NM_001102614.1:c.934_937dup, XM_047436533.1:c.943del, XM_047436533.1:c.940_943dup, NP_001096084.1:p.Ala313fs, NP_001096084.1:p.Ala313fs, XP_047292489.1:p.Ala315fs, XP_047292489.1:p.Ala315fs
8.
rs1488351941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:7481426
(GRCh38)
17:7384745
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7481425:C:T
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_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.
rs1488238933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:7480694
(GRCh38)
17:7384013
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7480693:T:C
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1487983701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:7480844
(GRCh38)
17:7384163
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7480843:G:C
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487774866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:7481350
(GRCh38)
17:7384669
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7481349:A:G
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487759934 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 17:7481074
(GRCh38)
17:7384393
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7481073:G:
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
13.
rs1487448538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:7482597
(GRCh38)
17:7385916
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7482596:C:T
- Gene:
- POLR2A (Varview), ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,intron_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487189246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:7483421
(GRCh38)
17:7386740
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7483420:C:A
- Gene:
- POLR2A (Varview), ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487005081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:7481579
(GRCh38)
17:7384898
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7481578:C:T
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000142/2
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1484700890 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACCCA>-
[Show Flanks]
- Chromosome:
- 17:7482027
(GRCh38)
17:7385346
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7482024:CACACCCA:CA
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- inframe_deletion,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000016/4
(GnomAD_exomes)
- HGVS:
17.
rs1484641832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:7479683
(GRCh38)
17:7383002
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7479682:C:A,NC_000017.11:7479682:C:T
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000251/34
(GnomAD)
- HGVS:
18.
rs1482681085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:7481380
(GRCh38)
17:7384699
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7481379:G:A
- Gene:
- ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
19.
rs1482630221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:7483386
(GRCh38)
17:7386705
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7483385:G:A
- Gene:
- POLR2A (Varview), ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
20.
rs1482346192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:7483323
(GRCh38)
17:7386642
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7483322:G:A,NC_000017.11:7483322:G:C
- Gene:
- POLR2A (Varview), ZBTB4 (Varview), SLC35G6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.7483323G>A, NC_000017.11:g.7483323G>C, NC_000017.10:g.7386642G>A, NC_000017.10:g.7386642G>C, NG_027747.2:g.3945G>A, NG_027747.2:g.3945G>C, NW_016107299.1:g.103780G>A, NW_016107299.1:g.103780G>C, XM_047436533.1:c.*322G>A, XM_047436533.1:c.*322G>C, NM_001102614.2:c.*322G>A, NM_001102614.2:c.*322G>C