Links from Protein
Items: 1 to 20 of 643
2.
rs1486301443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:3784903
(GRCh38)
20:3765550
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3784902:T:C
- Gene:
- CENPB (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1485000639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:3784990
(GRCh38)
20:3765637
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3784989:G:C
- Gene:
- CDC25B (Varview), CENPB (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1484388993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 20:3785858
(GRCh38)
20:3766505
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3785857:G:A,NC_000020.11:3785857:G:C
- Gene:
- CDC25B (Varview), CENPB (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000020.11:g.3785858G>A, NC_000020.11:g.3785858G>C, NC_000020.10:g.3766505G>A, NC_000020.10:g.3766505G>C, NG_029040.2:g.4087G>A, NG_029040.2:g.4087G>C, NM_001810.6:c.626C>T, NM_001810.6:c.626C>G, NM_001810.5:c.626C>T, NM_001810.5:c.626C>G, NP_001801.1:p.Ala209Val, NP_001801.1:p.Ala209Gly
7.
rs1483829349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:3785550
(GRCh38)
20:3766197
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3785549:C:A
- Gene:
- CDC25B (Varview), CENPB (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000009/2
(GnomAD_exomes)
- HGVS:
9.
rs1482800155 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCCCTC>-
[Show Flanks]
- Chromosome:
- 20:3785269
(GRCh38)
20:3765916
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3785264:CCTCTCCCTC:CCTC
- Gene:
- CDC25B (Varview), CENPB (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,inframe_deletion
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTC=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000022/3
(GnomAD)
- HGVS:
10.
rs1480653341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:3785160
(GRCh38)
20:3765807
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3785159:A:C
- Gene:
- CDC25B (Varview), CENPB (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.12975/3278
(
ALFA)
C=0.003513/57
(TOMMO)
C=0.009057/58
(1000Genomes)
C=0.011097/1845
(GnomAD_exomes)
C=0.065309/1735
(GnomAD)
C=0.102195/298
(KOREAN)
- HGVS:
15.
rs1472837172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:3785729
(GRCh38)
20:3766376
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3785728:G:T
- Gene:
- CDC25B (Varview), CENPB (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
16.
rs1472284168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 20:3785133
(GRCh38)
20:3765780
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3785132:C:A,NC_000020.11:3785132:C:G
- Gene:
- CDC25B (Varview), CENPB (Varview)
- Functional Consequence:
- missense_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000020.11:g.3785133C>A, NC_000020.11:g.3785133C>G, NC_000020.10:g.3765780C>A, NC_000020.10:g.3765780C>G, NG_029040.2:g.3362C>A, NG_029040.2:g.3362C>G, NM_001810.6:c.1351G>T, NM_001810.6:c.1351G>C, NM_001810.5:c.1351G>T, NM_001810.5:c.1351G>C, NP_001801.1:p.Glu451Ter, NP_001801.1:p.Glu451Gln
17.
rs1472220152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:3785519
(GRCh38)
20:3766166
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3785518:A:G
- Gene:
- CDC25B (Varview), CENPB (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000014/3
(GnomAD_exomes)
- HGVS:
18.
rs1469896763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:3784742
(GRCh38)
20:3765389
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3784741:A:C
- Gene:
- CENPB (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1469436269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:3786313
(GRCh38)
20:3766960
(GRCh37)
- Canonical SPDI:
- NC_000020.11:3786312:G:A
- Gene:
- CDC25B (Varview), CENPB (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS: