Links from Gene
Items: 1 to 20 of 1000
1.
rs1491508100 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:67491446
(GRCh38)
4:68357164
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67491445:CA:
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00167/27
(
ALFA)
-=0.0016/96
(GnomAD)
- HGVS:
2.
rs1491482727 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 4:67490836
(GRCh38)
4:68356555
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67490836::T
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00039/24
(GnomAD)
- HGVS:
3.
rs1491405739 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:67490837
(GRCh38)
4:68356555
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67490835:AAA:A
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00042/5
(
ALFA)
-=0.00011/2
(TOMMO)
-=0.00107/68
(GnomAD)
- HGVS:
4.
rs1491265994 has merged into rs33944071 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 4:67489211
(GRCh38)
4:68354929
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000004.12:67489197:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
-=0.0537/207
(ALSPAC)
- HGVS:
NC_000004.12:g.67489199CA[6], NC_000004.12:g.67489199CA[7], NC_000004.12:g.67489199CA[8], NC_000004.12:g.67489199CA[9], NC_000004.12:g.67489199CA[10], NC_000004.12:g.67489199CA[11], NC_000004.12:g.67489199CA[13], NC_000004.12:g.67489199CA[14], NC_000004.12:g.67489199CA[15], NC_000004.12:g.67489199CA[16], NC_000004.12:g.67489199CA[17], NC_000004.12:g.67489199CA[18], NC_000004.11:g.68354917CA[6], NC_000004.11:g.68354917CA[7], NC_000004.11:g.68354917CA[8], NC_000004.11:g.68354917CA[9], NC_000004.11:g.68354917CA[10], NC_000004.11:g.68354917CA[11], NC_000004.11:g.68354917CA[13], NC_000004.11:g.68354917CA[14], NC_000004.11:g.68354917CA[15], NC_000004.11:g.68354917CA[16], NC_000004.11:g.68354917CA[17], NC_000004.11:g.68354917CA[18]
5.
rs1491105059 has merged into rs58687245 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 4:67491456
(GRCh38)
4:68357174
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:67491446:ATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- CENPC (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.67491448TA[4], NC_000004.12:g.67491448TA[5], NC_000004.12:g.67491448TA[6], NC_000004.12:g.67491448TA[7], NC_000004.12:g.67491448TA[8], NC_000004.12:g.67491448TA[9], NC_000004.12:g.67491448TA[10], NC_000004.12:g.67491448TA[11], NC_000004.12:g.67491448TA[12], NC_000004.12:g.67491448TA[13], NC_000004.12:g.67491448TA[14], NC_000004.12:g.67491448TA[15], NC_000004.12:g.67491448TA[16], NC_000004.12:g.67491448TA[18], NC_000004.12:g.67491448TA[19], NC_000004.12:g.67491448TA[20], NC_000004.12:g.67491448TA[21], NC_000004.12:g.67491448TA[22], NC_000004.12:g.67491448TA[23], NC_000004.12:g.67491448TA[24], NC_000004.12:g.67491448TA[25], NC_000004.11:g.68357166TA[4], NC_000004.11:g.68357166TA[5], NC_000004.11:g.68357166TA[6], NC_000004.11:g.68357166TA[7], NC_000004.11:g.68357166TA[8], NC_000004.11:g.68357166TA[9], NC_000004.11:g.68357166TA[10], NC_000004.11:g.68357166TA[11], NC_000004.11:g.68357166TA[12], NC_000004.11:g.68357166TA[13], NC_000004.11:g.68357166TA[14], NC_000004.11:g.68357166TA[15], NC_000004.11:g.68357166TA[16], NC_000004.11:g.68357166TA[18], NC_000004.11:g.68357166TA[19], NC_000004.11:g.68357166TA[20], NC_000004.11:g.68357166TA[21], NC_000004.11:g.68357166TA[22], NC_000004.11:g.68357166TA[23], NC_000004.11:g.68357166TA[24], NC_000004.11:g.68357166TA[25]
6.
rs1491081455 has merged into rs34160703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:67508524
(GRCh38)
4:68374242
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:67508513:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AA=0.2358/1181
(1000Genomes)
- HGVS:
NC_000004.12:g.67508524_67508536del, NC_000004.12:g.67508526_67508536del, NC_000004.12:g.67508527_67508536del, NC_000004.12:g.67508528_67508536del, NC_000004.12:g.67508529_67508536del, NC_000004.12:g.67508530_67508536del, NC_000004.12:g.67508531_67508536del, NC_000004.12:g.67508532_67508536del, NC_000004.12:g.67508533_67508536del, NC_000004.12:g.67508534_67508536del, NC_000004.12:g.67508535_67508536del, NC_000004.12:g.67508536del, NC_000004.12:g.67508536dup, NC_000004.12:g.67508535_67508536dup, NC_000004.12:g.67508534_67508536dup, NC_000004.12:g.67508533_67508536dup, NC_000004.12:g.67508532_67508536dup, NC_000004.12:g.67508531_67508536dup, NC_000004.12:g.67508530_67508536dup, NC_000004.12:g.67508529_67508536dup, NC_000004.12:g.67508528_67508536dup, NC_000004.11:g.68374242_68374254del, NC_000004.11:g.68374244_68374254del, NC_000004.11:g.68374245_68374254del, NC_000004.11:g.68374246_68374254del, NC_000004.11:g.68374247_68374254del, NC_000004.11:g.68374248_68374254del, NC_000004.11:g.68374249_68374254del, NC_000004.11:g.68374250_68374254del, NC_000004.11:g.68374251_68374254del, NC_000004.11:g.68374252_68374254del, NC_000004.11:g.68374253_68374254del, NC_000004.11:g.68374254del, NC_000004.11:g.68374254dup, NC_000004.11:g.68374253_68374254dup, NC_000004.11:g.68374252_68374254dup, NC_000004.11:g.68374251_68374254dup, NC_000004.11:g.68374250_68374254dup, NC_000004.11:g.68374249_68374254dup, NC_000004.11:g.68374248_68374254dup, NC_000004.11:g.68374247_68374254dup, NC_000004.11:g.68374246_68374254dup
7.
rs1491058147 has merged into rs142368514 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-,TCTC
[Show Flanks]
- Chromosome:
- 4:67523309
(GRCh38)
4:68389027
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67523303:CTCTCTC:CTCTC,NC_000004.12:67523303:CTCTCTC:CTCTCTCTC
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCTCTC=0.393475/2412
(
ALFA)
-=0.210699/386
(Korea1K)
-=0.226874/3802
(TOMMO)
-=0.298407/1494
(1000Genomes)
-=0.325/13
(GENOME_DK)
-=0.353333/212
(NorthernSweden)
-=0.376861/52594
(GnomAD)
-=0.390763/1506
(ALSPAC)
-=0.395631/1467
(TWINSUK)
-=0.403808/403
(GoNL)
-=0.460268/2062
(Estonian)
- HGVS:
9.
rs1490993603 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:67500093
(GRCh38)
4:68365811
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67500092:A:C
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490967662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:67498904
(GRCh38)
4:68364622
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67498903:G:A,NC_000004.12:67498903:G:C
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490914776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:67517101
(GRCh38)
4:68382819
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67517100:C:A,NC_000004.12:67517100:C:T
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490699347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:67485160
(GRCh38)
4:68350878
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67485159:T:G
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490671833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:67524883
(GRCh38)
4:68390601
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67524882:A:G
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS:
14.
rs1490616097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:67526075
(GRCh38)
4:68391793
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67526074:C:G
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
15.
rs1490582087 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:67541116
(GRCh38)
4:68406834
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67541115:A:G
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
16.
rs1490579478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:67470496
(GRCh38)
4:68336214
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67470495:C:A,NC_000004.12:67470495:C:T
- Gene:
- CENPC (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.67470496C>A, NC_000004.12:g.67470496C>T, NC_000004.11:g.68336214C>A, NC_000004.11:g.68336214C>T, NM_001812.4:c.*2109G>T, NM_001812.4:c.*2109G>A, NM_001812.3:c.*2109G>T, NM_001812.3:c.*2109G>A, NR_155754.2:n.5207G>T, NR_155754.2:n.5207G>A, NR_155754.1:n.5310G>T, NR_155754.1:n.5310G>A, NM_001362481.2:c.*2109G>T, NM_001362481.2:c.*2109G>A, NM_001362481.1:c.*2109G>T, NM_001362481.1:c.*2109G>A, XM_047449526.1:c.*2117G>T, XM_047449526.1:c.*2117G>A
17.
rs1490572676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:67542462
(GRCh38)
4:68408180
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67542461:T:C
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000071/2
(TOMMO)
- HGVS:
18.
rs1490519115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:67484703
(GRCh38)
4:68350421
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67484702:G:T
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
19.
rs1490436356 has merged into rs71219046 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 4:67491509
(GRCh38)
4:68357227
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:67491480:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- CENPC (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.67491481AG[14], NC_000004.12:g.67491481AG[15], NC_000004.12:g.67491481AG[16], NC_000004.12:g.67491481AG[17], NC_000004.12:g.67491481AG[18], NC_000004.12:g.67491481AG[19], NC_000004.12:g.67491481AG[20], NC_000004.12:g.67491481AG[21], NC_000004.12:g.67491481AG[22], NC_000004.12:g.67491481AG[23], NC_000004.12:g.67491481AG[25], NC_000004.12:g.67491481AG[26], NC_000004.12:g.67491481AG[27], NC_000004.12:g.67491481AG[28], NC_000004.12:g.67491481AG[29], NC_000004.12:g.67491481AG[30], NC_000004.12:g.67491481AG[31], NC_000004.12:g.67491481AG[32], NC_000004.12:g.67491481AG[33], NC_000004.12:g.67491481AG[34], NC_000004.12:g.67491481AG[35], NC_000004.12:g.67491481AG[36], NC_000004.11:g.68357199AG[14], NC_000004.11:g.68357199AG[15], NC_000004.11:g.68357199AG[16], NC_000004.11:g.68357199AG[17], NC_000004.11:g.68357199AG[18], NC_000004.11:g.68357199AG[19], NC_000004.11:g.68357199AG[20], NC_000004.11:g.68357199AG[21], NC_000004.11:g.68357199AG[22], NC_000004.11:g.68357199AG[23], NC_000004.11:g.68357199AG[25], NC_000004.11:g.68357199AG[26], NC_000004.11:g.68357199AG[27], NC_000004.11:g.68357199AG[28], NC_000004.11:g.68357199AG[29], NC_000004.11:g.68357199AG[30], NC_000004.11:g.68357199AG[31], NC_000004.11:g.68357199AG[32], NC_000004.11:g.68357199AG[33], NC_000004.11:g.68357199AG[34], NC_000004.11:g.68357199AG[35], NC_000004.11:g.68357199AG[36]
20.
rs1490345432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:67478359
(GRCh38)
4:68344077
(GRCh37)
- Canonical SPDI:
- NC_000004.12:67478358:A:T
- Gene:
- CENPC (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: