Links from Gene
Items: 1 to 20 of 4015
1.
rs1491168060 has merged into rs11448169 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 17:47972103
(GRCh38)
17:46049469
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47972093:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:47972093:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:47972093:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:47972093:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:47972093:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:47972093:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:47972093:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.390974/1958
(1000Genomes)
- HGVS:
NC_000017.11:g.47972103_47972107del, NC_000017.11:g.47972104_47972107del, NC_000017.11:g.47972106_47972107del, NC_000017.11:g.47972107del, NC_000017.11:g.47972107dup, NC_000017.11:g.47972106_47972107dup, NC_000017.11:g.47972105_47972107dup, NC_000017.10:g.46049469_46049473del, NC_000017.10:g.46049470_46049473del, NC_000017.10:g.46049472_46049473del, NC_000017.10:g.46049473del, NC_000017.10:g.46049473dup, NC_000017.10:g.46049472_46049473dup, NC_000017.10:g.46049471_46049473dup
3.
rs1490985530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:47973629
(GRCh38)
17:46050995
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47973628:G:A
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
NC_000017.11:g.47973629G>A, NC_000017.10:g.46050995G>A, NM_176096.3:c.163G>A, NM_176096.2:c.163G>A, XM_017025166.3:c.-160G>A, XM_017025166.2:c.-160G>A, XM_017025166.1:c.-160G>A, NM_001278216.2:c.-1438G>A, NM_001278216.1:c.-1438G>A, NM_001278198.2:c.-1438G>A, NM_001278198.1:c.-1438G>A, NM_001278217.2:c.-809G>A, NM_001278217.1:c.-809G>A, NM_001278197.2:c.238G>A, NM_001278197.1:c.238G>A, NM_025197.2:c.163G>A, XM_011525297.1:c.238G>A, NM_176095.1:c.163G>A, NM_025197.1:c.-809G>A, NP_788276.1:p.Ala55Thr, NP_001265126.1:p.Ala80Thr, XP_011523599.1:p.Ala80Thr
4.
rs1490968661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:47971807
(GRCh38)
17:46049173
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47971806:G:A
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
5.
rs1490957632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:47978381
(GRCh38)
17:46055747
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47978380:C:G,NC_000017.11:47978380:C:T
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000036/5
(GnomAD)
- HGVS:
6.
rs1490824940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 17:47980755
(GRCh38)
17:46058121
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47980754:A:G,NC_000017.11:47980754:A:T
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000017.11:g.47980755A>G, NC_000017.11:g.47980755A>T, NC_000017.10:g.46058121A>G, NC_000017.10:g.46058121A>T, NM_176096.3:c.1240A>G, NM_176096.3:c.1240A>T, NM_176096.2:c.1240A>G, NM_176096.2:c.1240A>T, XM_017025166.3:c.961A>G, XM_017025166.3:c.961A>T, XM_017025166.2:c.961A>G, XM_017025166.2:c.961A>T, XM_017025166.1:c.961A>G, XM_017025166.1:c.961A>T, NM_001278216.2:c.565A>G, NM_001278216.2:c.565A>T, NM_001278216.1:c.565A>G, NM_001278216.1:c.565A>T, NM_001278198.2:c.565A>G, NM_001278198.2:c.565A>T, NM_001278198.1:c.565A>G, NM_001278198.1:c.565A>T, NM_001278217.2:c.979A>G, NM_001278217.2:c.979A>T, NM_001278217.1:c.979A>G, NM_001278217.1:c.979A>T, NM_001278197.2:c.1315A>G, NM_001278197.2:c.1315A>T, NM_001278197.1:c.1315A>G, NM_001278197.1:c.1315A>T, NM_025197.2:c.*1539A>G, NM_025197.2:c.*1539A>T, XM_011525297.1:c.1315A>G, XM_011525297.1:c.1315A>T, NM_176095.1:c.*1754A>G, NM_176095.1:c.*1754A>T, NM_025197.1:c.979A>G, NM_025197.1:c.979A>T, NP_788276.1:p.Ser414Gly, NP_788276.1:p.Ser414Cys, XP_016880655.1:p.Ser321Gly, XP_016880655.1:p.Ser321Cys, NP_001265145.1:p.Ser189Gly, NP_001265145.1:p.Ser189Cys, NP_001265127.1:p.Ser189Gly, NP_001265127.1:p.Ser189Cys, NP_001265146.1:p.Ser327Gly, NP_001265146.1:p.Ser327Cys, NP_001265126.1:p.Ser439Gly, NP_001265126.1:p.Ser439Cys, XP_011523599.1:p.Ser439Gly, XP_011523599.1:p.Ser439Cys
7.
rs1490536801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:47974542
(GRCh38)
17:46051908
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47974541:G:A
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000017.11:g.47974542G>A, NC_000017.10:g.46051908G>A, NM_001278216.2:c.-1173G>A, NM_001278216.1:c.-1173G>A, NM_001278198.2:c.-1173G>A, NM_001278198.1:c.-1173G>A, NM_001278217.2:c.-544G>A, NM_001278217.1:c.-544G>A, NM_025197.2:c.*17G>A, NM_176095.1:c.*17G>A, NM_025197.1:c.-544G>A
8.
rs1490497116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:47970493
(GRCh38)
17:46047859
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47970492:T:G
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000053/14
(TOPMED)
- HGVS:
9.
rs1490155768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:47972328
(GRCh38)
17:46049694
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47972327:A:C,NC_000017.11:47972327:A:G
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.001667/1
(NorthernSweden)
- HGVS:
10.
rs1490007658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 17:47981371
(GRCh38)
17:46058737
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47981370:T:A,NC_000017.11:47981370:T:C
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1489751028 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 17:47972815
(GRCh38)
17:46050182
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47972815:TTTT:TTTTT
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTT=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
12.
rs1489560594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 17:47982265
(GRCh38)
17:46059631
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47982264:A:G,NC_000017.11:47982264:A:T
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489505173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:47969753
(GRCh38)
17:46047119
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47969752:G:A
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
14.
rs1489363269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:47975243
(GRCh38)
17:46052609
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47975242:A:G
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
NC_000017.11:g.47975243A>G, NC_000017.10:g.46052609A>G, NM_176096.3:c.419A>G, NM_176096.2:c.419A>G, XM_017025166.3:c.140A>G, XM_017025166.2:c.140A>G, XM_017025166.1:c.140A>G, NM_001278216.2:c.-472A>G, NM_001278216.1:c.-472A>G, NM_001278198.2:c.-472A>G, NM_001278198.1:c.-472A>G, NM_001278217.2:c.158A>G, NM_001278217.1:c.158A>G, NM_001278197.2:c.494A>G, NM_001278197.1:c.494A>G, NM_025197.2:c.*718A>G, XM_011525297.1:c.494A>G, NM_176095.1:c.*718A>G, NM_025197.1:c.158A>G, NP_788276.1:p.Gln140Arg, XP_016880655.1:p.Gln47Arg, NP_001265146.1:p.Gln53Arg, NP_001265126.1:p.Gln165Arg, XP_011523599.1:p.Gln165Arg
15.
rs1489351041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:47966114
(GRCh38)
17:46043480
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47966113:C:A
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489320989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:47966046
(GRCh38)
17:46043412
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47966045:G:A
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
17.
rs1489295722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:47968674
(GRCh38)
17:46046040
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47968673:C:T
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000079/21
(TOPMED)
T=0.000389/7
(TOMMO)
T=0.001027/3
(KOREAN)
T=0.003821/7
(Korea1K)
- HGVS:
18.
rs1489284819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:47981211
(GRCh38)
17:46058577
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47981210:C:T
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000017.11:g.47981211C>T, NC_000017.10:g.46058577C>T, NM_176096.3:c.1332C>T, NM_176096.2:c.1332C>T, XM_017025166.3:c.1053C>T, XM_017025166.2:c.1053C>T, XM_017025166.1:c.1053C>T, NM_001278216.2:c.657C>T, NM_001278216.1:c.657C>T, NM_001278198.2:c.657C>T, NM_001278198.1:c.657C>T, NM_001278217.2:c.1071C>T, NM_001278217.1:c.1071C>T, NM_001278197.2:c.1407C>T, NM_001278197.1:c.1407C>T, NM_025197.2:c.*1631C>T, XM_011525297.1:c.1407C>T, NM_176095.1:c.*1846C>T, NM_025197.1:c.1071C>T
19.
rs1488879192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:47972795
(GRCh38)
17:46050161
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47972794:T:A
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1488626462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:47975505
(GRCh38)
17:46052871
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47975504:C:A,NC_000017.11:47975504:C:T
- Gene:
- CDK5RAP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: