Links from Gene
Items: 1 to 20 of 1000
3.
rs1491487718 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:183130406
(GRCh38)
2:183995135
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183130406:G:GG
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
4.
rs1491474403 has merged into rs1553528913 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 2:183130407
(GRCh38)
2:183995135
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183130405:TGT:T
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.031288/509
(
ALFA)
-=0.001061/116
(ExAC)
-=0.001451/24
(TOMMO)
-=0.003207/369
(GnomAD)
-=0.007182/13
(Korea1K)
- HGVS:
5.
rs1491463320 has merged into rs67798004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 2:183152130
(GRCh38)
2:184016858
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:183152110:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACA=0./0
(
ALFA)
ACACACACACACACACAC=0./0
(GENOME_DK)
-=0.2081/802
(ALSPAC)
- HGVS:
NC_000002.12:g.183152112CA[9], NC_000002.12:g.183152112CA[10], NC_000002.12:g.183152112CA[11], NC_000002.12:g.183152112CA[12], NC_000002.12:g.183152112CA[13], NC_000002.12:g.183152112CA[14], NC_000002.12:g.183152112CA[15], NC_000002.12:g.183152112CA[16], NC_000002.12:g.183152112CA[17], NC_000002.12:g.183152112CA[18], NC_000002.12:g.183152112CA[19], NC_000002.12:g.183152112CA[20], NC_000002.12:g.183152112CA[21], NC_000002.12:g.183152112CA[23], NC_000002.12:g.183152112CA[24], NC_000002.12:g.183152112CA[25], NC_000002.12:g.183152112CA[26], NC_000002.12:g.183152112CA[27], NC_000002.12:g.183152112CA[28], NC_000002.12:g.183152112CA[29], NC_000002.12:g.183152112CA[30], NC_000002.12:g.183152112CA[31], NC_000002.12:g.183152112CA[32], NC_000002.11:g.184016840CA[9], NC_000002.11:g.184016840CA[10], NC_000002.11:g.184016840CA[11], NC_000002.11:g.184016840CA[12], NC_000002.11:g.184016840CA[13], NC_000002.11:g.184016840CA[14], NC_000002.11:g.184016840CA[15], NC_000002.11:g.184016840CA[16], NC_000002.11:g.184016840CA[17], NC_000002.11:g.184016840CA[18], NC_000002.11:g.184016840CA[19], NC_000002.11:g.184016840CA[20], NC_000002.11:g.184016840CA[21], NC_000002.11:g.184016840CA[23], NC_000002.11:g.184016840CA[24], NC_000002.11:g.184016840CA[25], NC_000002.11:g.184016840CA[26], NC_000002.11:g.184016840CA[27], NC_000002.11:g.184016840CA[28], NC_000002.11:g.184016840CA[29], NC_000002.11:g.184016840CA[30], NC_000002.11:g.184016840CA[31], NC_000002.11:g.184016840CA[32]
6.
rs1491389320 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:183152109
(GRCh38)
2:184016838
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183152109::C
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000106/3
(TOMMO)
C=0.000179/19
(GnomAD)
- HGVS:
8.
rs1491272901 has merged into rs147315571 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:183138272
(GRCh38)
2:184003000
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183138269:TTTTTTTTTTTTTTT:TT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:183138269:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.183138272_183138284del, NC_000002.12:g.183138274_183138284del, NC_000002.12:g.183138276_183138284del, NC_000002.12:g.183138277_183138284del, NC_000002.12:g.183138278_183138284del, NC_000002.12:g.183138279_183138284del, NC_000002.12:g.183138280_183138284del, NC_000002.12:g.183138281_183138284del, NC_000002.12:g.183138282_183138284del, NC_000002.12:g.183138283_183138284del, NC_000002.12:g.183138284del, NC_000002.12:g.183138284dup, NC_000002.12:g.183138283_183138284dup, NC_000002.12:g.183138282_183138284dup, NC_000002.12:g.183138281_183138284dup, NC_000002.12:g.183138280_183138284dup, NC_000002.12:g.183138279_183138284dup, NC_000002.12:g.183138278_183138284dup, NC_000002.12:g.183138277_183138284dup, NC_000002.12:g.183138276_183138284dup, NC_000002.12:g.183138275_183138284dup, NC_000002.12:g.183138274_183138284dup, NC_000002.11:g.184003000_184003012del, NC_000002.11:g.184003002_184003012del, NC_000002.11:g.184003004_184003012del, NC_000002.11:g.184003005_184003012del, NC_000002.11:g.184003006_184003012del, NC_000002.11:g.184003007_184003012del, NC_000002.11:g.184003008_184003012del, NC_000002.11:g.184003009_184003012del, NC_000002.11:g.184003010_184003012del, NC_000002.11:g.184003011_184003012del, NC_000002.11:g.184003012del, NC_000002.11:g.184003012dup, NC_000002.11:g.184003011_184003012dup, NC_000002.11:g.184003010_184003012dup, NC_000002.11:g.184003009_184003012dup, NC_000002.11:g.184003008_184003012dup, NC_000002.11:g.184003007_184003012dup, NC_000002.11:g.184003006_184003012dup, NC_000002.11:g.184003005_184003012dup, NC_000002.11:g.184003004_184003012dup, NC_000002.11:g.184003003_184003012dup, NC_000002.11:g.184003002_184003012dup
9.
rs1491242794 has merged into rs3029530 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:183120453
(GRCh38)
2:183985181
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1186/457
(ALSPAC)
A=0.4583/2295
(1000Genomes)
- HGVS:
NC_000002.12:g.183120453_183120463del, NC_000002.12:g.183120456_183120463del, NC_000002.12:g.183120459_183120463del, NC_000002.12:g.183120460_183120463del, NC_000002.12:g.183120461_183120463del, NC_000002.12:g.183120462_183120463del, NC_000002.12:g.183120463del, NC_000002.12:g.183120463dup, NC_000002.12:g.183120462_183120463dup, NC_000002.12:g.183120461_183120463dup, NC_000002.12:g.183120460_183120463dup, NC_000002.11:g.183985181_183985191del, NC_000002.11:g.183985184_183985191del, NC_000002.11:g.183985187_183985191del, NC_000002.11:g.183985188_183985191del, NC_000002.11:g.183985189_183985191del, NC_000002.11:g.183985190_183985191del, NC_000002.11:g.183985191del, NC_000002.11:g.183985191dup, NC_000002.11:g.183985190_183985191dup, NC_000002.11:g.183985189_183985191dup, NC_000002.11:g.183985188_183985191dup
10.
rs1491184790 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCACAC
[Show Flanks]
- Chromosome:
- 2:183152111
(GRCh38)
2:184016840
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183152111:CACAC:CACACGCACAC
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACACGCACAC=0./0
(
ALFA)
CACACG=0.00192/9
(GnomAD)
- HGVS:
11.
rs1491114857 has merged into rs3029530 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:183120453
(GRCh38)
2:183985181
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1186/457
(ALSPAC)
A=0.4583/2295
(1000Genomes)
- HGVS:
NC_000002.12:g.183120453_183120463del, NC_000002.12:g.183120456_183120463del, NC_000002.12:g.183120459_183120463del, NC_000002.12:g.183120460_183120463del, NC_000002.12:g.183120461_183120463del, NC_000002.12:g.183120462_183120463del, NC_000002.12:g.183120463del, NC_000002.12:g.183120463dup, NC_000002.12:g.183120462_183120463dup, NC_000002.12:g.183120461_183120463dup, NC_000002.12:g.183120460_183120463dup, NC_000002.11:g.183985181_183985191del, NC_000002.11:g.183985184_183985191del, NC_000002.11:g.183985187_183985191del, NC_000002.11:g.183985188_183985191del, NC_000002.11:g.183985189_183985191del, NC_000002.11:g.183985190_183985191del, NC_000002.11:g.183985191del, NC_000002.11:g.183985191dup, NC_000002.11:g.183985190_183985191dup, NC_000002.11:g.183985189_183985191dup, NC_000002.11:g.183985188_183985191dup
12.
rs1491075000 has merged into rs35434258 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:183147927
(GRCh38)
2:184012655
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183147915:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:183147915:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:183147915:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:183147915:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:183147915:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0.000091/1
(
ALFA)
-=0.168396/649
(ALSPAC)
-=0.192287/713
(TWINSUK)
-=0.220205/58286
(TOPMED)
-=0.222642/1003
(1000Genomes)
- HGVS:
13.
rs1491072262 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 2:183135886
(GRCh38)
2:184000614
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183135885:AAAAAAAAAA:AAAAAAAAA,NC_000002.12:183135885:AAAAAAAAAA:AAAAAAAAAAA
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.00014/2
(TOMMO)
- HGVS:
14.
rs1491071451 has merged into rs71008267 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:183126651
(GRCh38)
2:183991379
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTT,NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:183126642:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NUP35 (Varview), LOC124907917 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.3638/1822
(1000Genomes)
- HGVS:
NC_000002.12:g.183126651_183126653del, NC_000002.12:g.183126652_183126653del, NC_000002.12:g.183126653del, NC_000002.12:g.183126653dup, NC_000002.12:g.183126652_183126653dup, NC_000002.12:g.183126651_183126653dup, NC_000002.12:g.183126650_183126653dup, NC_000002.12:g.183126649_183126653dup, NC_000002.12:g.183126648_183126653dup, NC_000002.12:g.183126653_183126654insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.183991379_183991381del, NC_000002.11:g.183991380_183991381del, NC_000002.11:g.183991381del, NC_000002.11:g.183991381dup, NC_000002.11:g.183991380_183991381dup, NC_000002.11:g.183991379_183991381dup, NC_000002.11:g.183991378_183991381dup, NC_000002.11:g.183991377_183991381dup, NC_000002.11:g.183991376_183991381dup, NC_000002.11:g.183991381_183991382insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
15.
rs1491046107 has merged into rs34331888 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 2:183128611
(GRCh38)
2:183993339
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183128599:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:183128599:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:183128599:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:183128599:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:183128599:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:183128599:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1674/645
(ALSPAC)
-=0.4093/2050
(1000Genomes)
- HGVS:
NC_000002.12:g.183128611_183128614del, NC_000002.12:g.183128612_183128614del, NC_000002.12:g.183128613_183128614del, NC_000002.12:g.183128614del, NC_000002.12:g.183128614dup, NC_000002.12:g.183128613_183128614dup, NC_000002.11:g.183993339_183993342del, NC_000002.11:g.183993340_183993342del, NC_000002.11:g.183993341_183993342del, NC_000002.11:g.183993342del, NC_000002.11:g.183993342dup, NC_000002.11:g.183993341_183993342dup
16.
rs1490959044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:183129302
(GRCh38)
2:183994030
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183129301:A:G
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490939710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:183134762
(GRCh38)
2:183999490
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183134761:C:T
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490921903 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:183133594
(GRCh38)
2:183998322
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183133593:TT:T
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.183133595del, NC_000002.11:g.183998323del, NM_138285.5:c.369del, NM_138285.4:c.369del, NM_138285.3:c.369del, XM_011510576.4:c.318del, XM_011510576.3:c.318del, XM_011510576.2:c.318del, XM_011510576.1:c.318del, XM_006712254.4:c.318del, XM_006712254.3:c.318del, XM_006712254.2:c.318del, XM_006712254.1:c.318del, XM_011510577.3:c.318del, XM_011510577.2:c.318del, XM_011510577.1:c.318del, NM_001287584.2:c.318del, NM_001287584.1:c.318del, NM_001287585.2:c.15del, NM_001287585.1:c.15del, NR_109856.2:n.384del, NR_109856.1:n.472del, XM_017003308.1:c.378del, XM_047443270.1:c.318del, NM_001008544.1:c.369del, NP_612142.2:p.Val124fs, XP_011508878.1:p.Val107fs, XP_006712317.1:p.Val107fs, XP_011508879.1:p.Val107fs, NP_001274513.1:p.Val107fs, NP_001274514.1:p.Val6fs, XP_016858797.1:p.Val127fs, XP_047299226.1:p.Val107fs
19.
rs1490869860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:183158454
(GRCh38)
2:184023182
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183158453:A:G
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490793266 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:183152482
(GRCh38)
2:184017210
(GRCh37)
- Canonical SPDI:
- NC_000002.12:183152481:T:
- Gene:
- NUP35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS: