Links from Gene
Items: 1 to 20 of 22599
2.
rs1491573144 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAAAATAAAATAAAATAAAATAAAATAA
[Show Flanks]
- Chromosome:
- 16:57860033
(GRCh38)
16:57893938
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57860033:AA:AATAAAATAAAATAAAATAAAATAAAATAA
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
AATAAAATAAAATAAAATAAAATAAAAT=0.00025/18
(GnomAD)
- HGVS:
3.
rs1491557204 has merged into rs57102595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:57857834
(GRCh38)
16:57891738
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57857822:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTTT=0.1975/761
(ALSPAC)
TTTT=0.2112/783
(TWINSUK)
- HGVS:
NC_000016.10:g.57857834_57857844del, NC_000016.10:g.57857835_57857844del, NC_000016.10:g.57857836_57857844del, NC_000016.10:g.57857837_57857844del, NC_000016.10:g.57857838_57857844del, NC_000016.10:g.57857839_57857844del, NC_000016.10:g.57857840_57857844del, NC_000016.10:g.57857841_57857844del, NC_000016.10:g.57857842_57857844del, NC_000016.10:g.57857843_57857844del, NC_000016.10:g.57857844del, NC_000016.10:g.57857844dup, NC_000016.10:g.57857843_57857844dup, NC_000016.10:g.57857842_57857844dup, NC_000016.10:g.57857841_57857844dup, NC_000016.10:g.57857840_57857844dup, NC_000016.10:g.57857839_57857844dup, NC_000016.10:g.57857838_57857844dup, NC_000016.10:g.57857837_57857844dup, NC_000016.10:g.57857836_57857844dup, NC_000016.10:g.57857835_57857844dup, NC_000016.10:g.57857834_57857844dup, NC_000016.10:g.57857833_57857844dup, NC_000016.10:g.57857823_57857844T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.57857832_57857844dup, NC_000016.10:g.57857830_57857844dup, NC_000016.10:g.57857829_57857844dup, NC_000016.10:g.57857828_57857844dup, NC_000016.10:g.57857826_57857844dup, NC_000016.9:g.57891738_57891748del, NC_000016.9:g.57891739_57891748del, NC_000016.9:g.57891740_57891748del, NC_000016.9:g.57891741_57891748del, NC_000016.9:g.57891742_57891748del, NC_000016.9:g.57891743_57891748del, NC_000016.9:g.57891744_57891748del, NC_000016.9:g.57891745_57891748del, NC_000016.9:g.57891746_57891748del, NC_000016.9:g.57891747_57891748del, NC_000016.9:g.57891748del, NC_000016.9:g.57891748dup, NC_000016.9:g.57891747_57891748dup, NC_000016.9:g.57891746_57891748dup, NC_000016.9:g.57891745_57891748dup, NC_000016.9:g.57891744_57891748dup, NC_000016.9:g.57891743_57891748dup, NC_000016.9:g.57891742_57891748dup, NC_000016.9:g.57891741_57891748dup, NC_000016.9:g.57891740_57891748dup, NC_000016.9:g.57891739_57891748dup, NC_000016.9:g.57891738_57891748dup, NC_000016.9:g.57891737_57891748dup, NC_000016.9:g.57891727_57891748T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.57891736_57891748dup, NC_000016.9:g.57891734_57891748dup, NC_000016.9:g.57891733_57891748dup, NC_000016.9:g.57891732_57891748dup, NC_000016.9:g.57891730_57891748dup
7.
rs1491530762 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAAAATAAAATAAAATAAA
[Show Flanks]
- Chromosome:
- 16:57860038
(GRCh38)
16:57893943
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57860038:AAATAAAATAAAATAAAATAAA:AAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAA
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
AAATAAAATAAAATAAAAT=0.00411/397
(GnomAD)
- HGVS:
8.
rs1491513099 has merged into rs533115992 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:57811929
(GRCh38)
16:57845841
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AA=0.1587/795
(1000Genomes)
- HGVS:
NC_000016.10:g.57811929_57811936del, NC_000016.10:g.57811930_57811936del, NC_000016.10:g.57811931_57811936del, NC_000016.10:g.57811932_57811936del, NC_000016.10:g.57811933_57811936del, NC_000016.10:g.57811934_57811936del, NC_000016.10:g.57811935_57811936del, NC_000016.10:g.57811936del, NC_000016.10:g.57811936dup, NC_000016.10:g.57811935_57811936dup, NC_000016.10:g.57811934_57811936dup, NC_000016.10:g.57811930_57811936dup, NC_000016.9:g.57845841_57845848del, NC_000016.9:g.57845842_57845848del, NC_000016.9:g.57845843_57845848del, NC_000016.9:g.57845844_57845848del, NC_000016.9:g.57845845_57845848del, NC_000016.9:g.57845846_57845848del, NC_000016.9:g.57845847_57845848del, NC_000016.9:g.57845848del, NC_000016.9:g.57845848dup, NC_000016.9:g.57845847_57845848dup, NC_000016.9:g.57845846_57845848dup, NC_000016.9:g.57845842_57845848dup, NW_003871085.1:g.71820_71827del, NW_003871085.1:g.71821_71827del, NW_003871085.1:g.71822_71827del, NW_003871085.1:g.71823_71827del, NW_003871085.1:g.71824_71827del, NW_003871085.1:g.71825_71827del, NW_003871085.1:g.71826_71827del, NW_003871085.1:g.71827del, NW_003871085.1:g.71827dup, NW_003871085.1:g.71826_71827dup, NW_003871085.1:g.71825_71827dup, NW_003871085.1:g.71821_71827dup
9.
rs1491496838 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 16:57864184
(GRCh38)
16:57898088
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57864183:AC:
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.05/2
(GENOME_DK)
-=0.10791/60
(NorthernSweden)
-=0.15841/10777
(GnomAD)
-=0.20735/3426
(TOMMO)
- HGVS:
11.
rs1491430253 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAAAATAAAATAAA
[Show Flanks]
- Chromosome:
- 16:57860043
(GRCh38)
16:57893948
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57860043:AAATAAAATAAAATAAA:AAATAAAATAAAATAAATAAAATAAAATAAA
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
AAATAAAATAAAAT=0.00185/193
(GnomAD)
- HGVS:
12.
rs1491424619 has merged into rs1400337211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:57780591
(GRCh38)
16:57814503
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57780578:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57780578:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:57780578:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:57780578:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57780578:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:57780578:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000016.10:g.57780591_57780592del, NC_000016.10:g.57780592del, NC_000016.10:g.57780592dup, NC_000016.10:g.57780591_57780592dup, NC_000016.10:g.57780590_57780592dup, NC_000016.10:g.57780586_57780592dup, NC_000016.9:g.57814503_57814504del, NC_000016.9:g.57814504del, NC_000016.9:g.57814504dup, NC_000016.9:g.57814503_57814504dup, NC_000016.9:g.57814502_57814504dup, NC_000016.9:g.57814498_57814504dup, NW_003871085.1:g.40482_40483del, NW_003871085.1:g.40483del, NW_003871085.1:g.40483dup, NW_003871085.1:g.40482_40483dup, NW_003871085.1:g.40481_40483dup, NW_003871085.1:g.40477_40483dup, XM_047434089.1:c.-1453_-1452del, XM_047434089.1:c.-1452del, XM_047434089.1:c.-1452dup, XM_047434089.1:c.-1453_-1452dup, XM_047434089.1:c.-1454_-1452dup, XM_047434089.1:c.-1458_-1452dup
13.
rs1491408892 has merged into rs1377738930 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAAA,AAACAAAA
[Show Flanks]
- Chromosome:
- 16:57860034
(GRCh38)
16:57893938
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57860032:AAAA:A,NC_000016.10:57860032:AAAA:AA,NC_000016.10:57860032:AAAA:AAA,NC_000016.10:57860032:AAAA:AAAAAA,NC_000016.10:57860032:AAAA:AAAACAAAA
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
14.
rs1491385011 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:57811918
(GRCh38)
16:57845830
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57811917:CA:
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.05985/710
(
ALFA)
-=0.00092/15
(TOMMO)
- HGVS:
15.
rs1491382413 has merged into rs55718589 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:57862208
(GRCh38)
16:57896112
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57862193:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2073/799
(ALSPAC)
T=0.396/1983
(1000Genomes)
T=0.4737/18
(GENOME_DK)
- HGVS:
NC_000016.10:g.57862208_57862211del, NC_000016.10:g.57862209_57862211del, NC_000016.10:g.57862210_57862211del, NC_000016.10:g.57862211del, NC_000016.10:g.57862211dup, NC_000016.10:g.57862210_57862211dup, NC_000016.10:g.57862209_57862211dup, NC_000016.10:g.57862208_57862211dup, NC_000016.10:g.57862207_57862211dup, NC_000016.10:g.57862206_57862211dup, NC_000016.10:g.57862205_57862211dup, NC_000016.10:g.57862203_57862211dup, NC_000016.10:g.57862202_57862211dup, NC_000016.10:g.57862201_57862211dup, NC_000016.10:g.57862199_57862211dup, NC_000016.10:g.57862211_57862212insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.57896112_57896115del, NC_000016.9:g.57896113_57896115del, NC_000016.9:g.57896114_57896115del, NC_000016.9:g.57896115del, NC_000016.9:g.57896115dup, NC_000016.9:g.57896114_57896115dup, NC_000016.9:g.57896113_57896115dup, NC_000016.9:g.57896112_57896115dup, NC_000016.9:g.57896111_57896115dup, NC_000016.9:g.57896110_57896115dup, NC_000016.9:g.57896109_57896115dup, NC_000016.9:g.57896107_57896115dup, NC_000016.9:g.57896106_57896115dup, NC_000016.9:g.57896105_57896115dup, NC_000016.9:g.57896103_57896115dup, NC_000016.9:g.57896115_57896116insTTTTTTTTTTTTTTTTTTTTTTT
16.
rs1491374235 has merged into rs398100201 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 16:57857395
(GRCh38)
16:57891299
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57857393:TCT:T,NC_000016.10:57857393:TCT:TCTCT
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00031/21
(GnomAD)
- HGVS:
18.
rs1491359964 has merged into rs34278624 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:57855957
(GRCh38)
16:57889861
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57855945:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:57855945:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57855945:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:57855945:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:57855945:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57855945:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:57855945:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.035/135
(ALSPAC)
- HGVS:
NC_000016.10:g.57855957_57855960del, NC_000016.10:g.57855958_57855960del, NC_000016.10:g.57855959_57855960del, NC_000016.10:g.57855960del, NC_000016.10:g.57855960dup, NC_000016.10:g.57855959_57855960dup, NC_000016.10:g.57855954_57855960dup, NC_000016.9:g.57889861_57889864del, NC_000016.9:g.57889862_57889864del, NC_000016.9:g.57889863_57889864del, NC_000016.9:g.57889864del, NC_000016.9:g.57889864dup, NC_000016.9:g.57889863_57889864dup, NC_000016.9:g.57889858_57889864dup
19.
rs1491348948 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 16:57823761
(GRCh38)
16:57857665
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57823759:TTT:T
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00034/4
(
ALFA)
-=0.00073/37
(GnomAD)
-=0.00751/125
(TOMMO)
- HGVS:
20.
rs1491343455 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 16:57780578
(GRCh38)
16:57814490
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57780577:TA:
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000084/1
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS: