Links from Gene
Items: 1 to 20 of 1000
1.
rs1491583126 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:21943728
(GRCh38)
7:21983347
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21943728::A
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491554815 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 7:21930697
(GRCh38)
7:21970315
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21930696:CA:
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00076/9
(
ALFA)
-=0.0077/115
(TOMMO)
- HGVS:
3.
rs1491553254 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TACCGAGGGAGCTAAGAGAGGTTATACACCT
[Show Flanks]
- Chromosome:
- 7:21903653
(GRCh38)
7:21943272
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21903653:AGAGAGGTTATACACCT:AGAGAGGTTATACACCTTACCGAGGGAGCTAAGAGAGGTTATACACCT
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
AGAGAGGTTATACACCTTACCGAGGGAGCTA=0.000014/2
(GnomAD)
- HGVS:
4.
rs1491508777 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTCCTTCCATTTCTGTCA
[Show Flanks]
- Chromosome:
- 7:21902703
(GRCh38)
7:21942322
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21902703:GTTCCTTCCATTTCTGTCA:GTTCCTTCCATTTCTGTCAGTTCCTTCCATTTCTGTCA
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTTCCTTCCATTTCTGTCAGTTCCTTCCATTTCTGTCA=0./0
(
ALFA)
GTTCCTTCCATTTCTGTCA=0.000004/1
(TOPMED)
GTTCCTTCCATTTCTGTCA=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491426165 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,GGGGG
[Show Flanks]
- Chromosome:
- 7:21903099
(GRCh38)
7:21942717
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21903096:GGGGGG:GG,NC_000007.14:21903096:GGGGGG:GGGGGGG
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0.000132/2
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
NC_000007.14:g.21903099_21903102del, NC_000007.14:g.21903102dup, NC_000007.13:g.21942717_21942720del, NC_000007.13:g.21942720dup, NG_012886.2:g.364885_364888del, NG_012886.2:g.364888dup, NM_018719.5:c.1212_1215del, NM_018719.5:c.1215dup, NM_018719.4:c.1212_1215del, NM_018719.4:c.1215dup, NM_001127370.3:c.1110_1113del, NM_001127370.3:c.1113dup, NM_001127370.2:c.1110_1113del, NM_001127370.2:c.1113dup, NM_001127371.3:c.1074_1077del, NM_001127371.3:c.1077dup, NM_001127371.2:c.1074_1077del, NM_001127371.2:c.1077dup, NP_061189.2:p.Pro405fs, NP_061189.2:p.Cys406fs, NP_001120842.1:p.Pro371fs, NP_001120842.1:p.Cys372fs, NP_001120843.1:p.Pro359fs, NP_001120843.1:p.Cys360fs
8.
rs1491286846 has merged into rs3062638 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:21939972
(GRCh38)
7:21979590
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.21939972_21939984del, NC_000007.14:g.21939974_21939984del, NC_000007.14:g.21939975_21939984del, NC_000007.14:g.21939977_21939984del, NC_000007.14:g.21939978_21939984del, NC_000007.14:g.21939979_21939984del, NC_000007.14:g.21939980_21939984del, NC_000007.14:g.21939981_21939984del, NC_000007.14:g.21939982_21939984del, NC_000007.14:g.21939983_21939984del, NC_000007.14:g.21939984del, NC_000007.14:g.21939984dup, NC_000007.14:g.21939983_21939984dup, NC_000007.14:g.21939984_21939985insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.21939984_21939985insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.21979590_21979602del, NC_000007.13:g.21979592_21979602del, NC_000007.13:g.21979593_21979602del, NC_000007.13:g.21979595_21979602del, NC_000007.13:g.21979596_21979602del, NC_000007.13:g.21979597_21979602del, NC_000007.13:g.21979598_21979602del, NC_000007.13:g.21979599_21979602del, NC_000007.13:g.21979600_21979602del, NC_000007.13:g.21979601_21979602del, NC_000007.13:g.21979602del, NC_000007.13:g.21979602dup, NC_000007.13:g.21979601_21979602dup, NC_000007.13:g.21979602_21979603insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.21979602_21979603insAAAAAAAAAAAAAAAAAAAAAAAAAAA
9.
rs1491234420 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:21916514
(GRCh38)
7:21956132
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21916513:TA:
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/1
(GnomAD)
- HGVS:
10.
rs1491173315 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAGATTCCACAATCATCTA
[Show Flanks]
- Chromosome:
- 7:21902416
(GRCh38)
7:21942035
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21902416:AGAGATTCCACAATCATCTA:AGAGATTCCACAATCATCTAGAGATTCCACAATCATCTA
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGATTCCACAATCATCTAGAGATTCCACAATCATCTA=0.000071/1
(
ALFA)
AGAGATTCCACAATCATCT=0.000008/2
(TOPMED)
AGAGATTCCACAATCATCT=0.000014/2
(GnomAD)
- HGVS:
12.
rs1491155782 has merged into rs71557529 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:21916524
(GRCh38)
7:21956142
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAA=0.0216/108
(1000Genomes)
- HGVS:
NC_000007.14:g.21916524_21916538del, NC_000007.14:g.21916525_21916538del, NC_000007.14:g.21916526_21916538del, NC_000007.14:g.21916527_21916538del, NC_000007.14:g.21916528_21916538del, NC_000007.14:g.21916529_21916538del, NC_000007.14:g.21916530_21916538del, NC_000007.14:g.21916531_21916538del, NC_000007.14:g.21916532_21916538del, NC_000007.14:g.21916533_21916538del, NC_000007.14:g.21916534_21916538del, NC_000007.14:g.21916535_21916538del, NC_000007.14:g.21916536_21916538del, NC_000007.14:g.21916537_21916538del, NC_000007.14:g.21916538del, NC_000007.14:g.21916538dup, NC_000007.14:g.21916537_21916538dup, NC_000007.14:g.21916536_21916538dup, NC_000007.14:g.21916535_21916538dup, NC_000007.14:g.21916534_21916538dup, NC_000007.14:g.21916531_21916538dup, NC_000007.14:g.21916522_21916538dup, NC_000007.14:g.21916519_21916538dup, NC_000007.14:g.21916518_21916538dup, NC_000007.13:g.21956142_21956156del, NC_000007.13:g.21956143_21956156del, NC_000007.13:g.21956144_21956156del, NC_000007.13:g.21956145_21956156del, NC_000007.13:g.21956146_21956156del, NC_000007.13:g.21956147_21956156del, NC_000007.13:g.21956148_21956156del, NC_000007.13:g.21956149_21956156del, NC_000007.13:g.21956150_21956156del, NC_000007.13:g.21956151_21956156del, NC_000007.13:g.21956152_21956156del, NC_000007.13:g.21956153_21956156del, NC_000007.13:g.21956154_21956156del, NC_000007.13:g.21956155_21956156del, NC_000007.13:g.21956156del, NC_000007.13:g.21956156dup, NC_000007.13:g.21956155_21956156dup, NC_000007.13:g.21956154_21956156dup, NC_000007.13:g.21956153_21956156dup, NC_000007.13:g.21956152_21956156dup, NC_000007.13:g.21956149_21956156dup, NC_000007.13:g.21956140_21956156dup, NC_000007.13:g.21956137_21956156dup, NC_000007.13:g.21956136_21956156dup
13.
rs1491082418 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:21939983
(GRCh38)
7:21979602
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21939983::C
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000009/1
(GnomAD)
- HGVS:
14.
rs1490832335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:21933154
(GRCh38)
7:21972772
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21933153:G:A,NC_000007.14:21933153:G:T
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000071/2
(TOMMO)
- HGVS:
15.
rs1490827192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:21939214
(GRCh38)
7:21978832
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21939213:T:C
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
16.
rs1490781984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:21931508
(GRCh38)
7:21971126
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21931507:C:G
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490742430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:21902538
(GRCh38)
7:21942156
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21902537:T:C
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490677819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 7:21907213
(GRCh38)
7:21946831
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21907212:A:C,NC_000007.14:21907212:A:G
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490636519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:21911510
(GRCh38)
7:21951128
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21911509:G:T
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490631088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:21912408
(GRCh38)
7:21952026
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21912407:G:C
- Gene:
- CDCA7L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: