Links from Gene
Items: 1 to 20 of 28023
1.
rs1491575001 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 9:135769033
(GRCh38)
9:138660879
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135769032:AT:
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
2.
rs1491567202 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 9:135776647
(GRCh38)
9:138668493
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135776646:AT:
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
3.
rs1491544585 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 9:135764468
(GRCh38)
9:138656314
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135764466:AGA:A
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491538070 has merged into rs71505362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 9:135732767
(GRCh38)
9:138624613
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000009.12:135732750:TCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCTCTC=0./0
(
ALFA)
-=0.3604/1805
(1000Genomes)
- HGVS:
NC_000009.12:g.135732751TC[8], NC_000009.12:g.135732751TC[9], NC_000009.12:g.135732751TC[10], NC_000009.12:g.135732751TC[11], NC_000009.12:g.135732751TC[12], NC_000009.12:g.135732751TC[14], NC_000009.12:g.135732751TC[15], NC_000009.12:g.135732751TC[16], NC_000009.12:g.135732751TC[17], NC_000009.12:g.135732751TC[18], NC_000009.12:g.135732751TC[19], NC_000009.12:g.135732751TC[23], NC_000009.11:g.138624597TC[8], NC_000009.11:g.138624597TC[9], NC_000009.11:g.138624597TC[10], NC_000009.11:g.138624597TC[11], NC_000009.11:g.138624597TC[12], NC_000009.11:g.138624597TC[14], NC_000009.11:g.138624597TC[15], NC_000009.11:g.138624597TC[16], NC_000009.11:g.138624597TC[17], NC_000009.11:g.138624597TC[18], NC_000009.11:g.138624597TC[19], NC_000009.11:g.138624597TC[23], NG_033070.1:g.35567TC[8], NG_033070.1:g.35567TC[9], NG_033070.1:g.35567TC[10], NG_033070.1:g.35567TC[11], NG_033070.1:g.35567TC[12], NG_033070.1:g.35567TC[14], NG_033070.1:g.35567TC[15], NG_033070.1:g.35567TC[16], NG_033070.1:g.35567TC[17], NG_033070.1:g.35567TC[18], NG_033070.1:g.35567TC[19], NG_033070.1:g.35567TC[23]
5.
rs1491525455 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AATATATA,CATATATA
[Show Flanks]
- Chromosome:
- 9:135731961
(GRCh38)
9:138623808
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135731961:ATATATA:ATATATAAATATATA,NC_000009.12:135731961:ATATATA:ATATATACATATATA
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATACATATATA=0./0
(
ALFA)
ATATATAC=0.00043/3
(GnomAD)
ATATATAA=0.00096/15
(TOMMO)
- HGVS:
6.
rs1491402597 has merged into rs1189149987 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAGAGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 9:135732016
(GRCh38)
9:138623862
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000009.12:135731991:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGAGAGAGAGAGAGAG=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.135731992AG[12], NC_000009.12:g.135731992AG[13], NC_000009.12:g.135731992AG[14], NC_000009.12:g.135731992AG[15], NC_000009.12:g.135731992AG[16], NC_000009.12:g.135731992AG[17], NC_000009.12:g.135731992AG[18], NC_000009.12:g.135731992AG[19], NC_000009.12:g.135731992AG[20], NC_000009.12:g.135731992AG[21], NC_000009.12:g.135731992AG[22], NC_000009.12:g.135731992AG[23], NC_000009.12:g.135731992AG[24], NC_000009.12:g.135731992AG[26], NC_000009.12:g.135731992AG[27], NC_000009.12:g.135731992AG[28], NC_000009.12:g.135731992AG[29], NC_000009.12:g.135731992AG[30], NC_000009.12:g.135731992AG[31], NC_000009.12:g.135731992AG[32], NC_000009.12:g.135731992AG[33], NC_000009.12:g.135731992AG[34], NC_000009.12:g.135731992AG[35], NC_000009.12:g.135731992AG[36], NC_000009.12:g.135731992AG[37], NC_000009.11:g.138623838AG[12], NC_000009.11:g.138623838AG[13], NC_000009.11:g.138623838AG[14], NC_000009.11:g.138623838AG[15], NC_000009.11:g.138623838AG[16], NC_000009.11:g.138623838AG[17], NC_000009.11:g.138623838AG[18], NC_000009.11:g.138623838AG[19], NC_000009.11:g.138623838AG[20], NC_000009.11:g.138623838AG[21], NC_000009.11:g.138623838AG[22], NC_000009.11:g.138623838AG[23], NC_000009.11:g.138623838AG[24], NC_000009.11:g.138623838AG[26], NC_000009.11:g.138623838AG[27], NC_000009.11:g.138623838AG[28], NC_000009.11:g.138623838AG[29], NC_000009.11:g.138623838AG[30], NC_000009.11:g.138623838AG[31], NC_000009.11:g.138623838AG[32], NC_000009.11:g.138623838AG[33], NC_000009.11:g.138623838AG[34], NC_000009.11:g.138623838AG[35], NC_000009.11:g.138623838AG[36], NC_000009.11:g.138623838AG[37], NG_033070.1:g.34808AG[12], NG_033070.1:g.34808AG[13], NG_033070.1:g.34808AG[14], NG_033070.1:g.34808AG[15], NG_033070.1:g.34808AG[16], NG_033070.1:g.34808AG[17], NG_033070.1:g.34808AG[18], NG_033070.1:g.34808AG[19], NG_033070.1:g.34808AG[20], NG_033070.1:g.34808AG[21], NG_033070.1:g.34808AG[22], NG_033070.1:g.34808AG[23], NG_033070.1:g.34808AG[24], NG_033070.1:g.34808AG[26], NG_033070.1:g.34808AG[27], NG_033070.1:g.34808AG[28], NG_033070.1:g.34808AG[29], NG_033070.1:g.34808AG[30], NG_033070.1:g.34808AG[31], NG_033070.1:g.34808AG[32], NG_033070.1:g.34808AG[33], NG_033070.1:g.34808AG[34], NG_033070.1:g.34808AG[35], NG_033070.1:g.34808AG[36], NG_033070.1:g.34808AG[37]
7.
rs1491392986 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 9:135727092
(GRCh38)
9:138618938
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135727084:CTCTCTCTC:CTCTCTC
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCTCTC=0.00354/42
(
ALFA)
-=0.00007/1
(TOMMO)
- HGVS:
8.
rs1491388830 has merged into rs1246513348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT,GTGTGT
[Show Flanks]
- Chromosome:
- 9:135731960
(GRCh38)
9:138623806
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135731957:GTGT:GT,NC_000009.12:135731957:GTGT:GTGTGT,NC_000009.12:135731957:GTGT:GTGTGTGT
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGT=0.00049/8
(
ALFA)
-=0.00182/8
(Estonian)
- HGVS:
10.
rs1491331867 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTATATATAT>-,GTATATATATGTATATATAT
[Show Flanks]
- Chromosome:
- 9:135731960
(GRCh38)
9:138623806
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135731958:TGTATATATAT:T,NC_000009.12:135731958:TGTATATATAT:TGTATATATATGTATATATAT
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTATATATATGTATATATAT=0./0
(
ALFA)
TGTATATATA=0.00006/2
(GnomAD)
- HGVS:
12.
rs1491310170 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:135769231
(GRCh38)
9:138661078
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135769231::C
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000133/17
(GnomAD)
C=0.000937/6
(1000Genomes)
- HGVS:
13.
rs1491294757 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:135764467
(GRCh38)
9:138656314
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135764467::C
- Gene:
- KCNT1 (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:
14.
rs1491269890 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGGGGG
[Show Flanks]
- Chromosome:
- 9:135768241
(GRCh38)
9:138660088
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135768241:GGGGG:GGGGGTGGGGG
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGGTGGGGG=0.00025/3
(
ALFA)
GGGGGT=0.00018/3
(TOMMO)
- HGVS:
16.
rs1491232757 has merged into rs776201547 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 9:135731971
(GRCh38)
9:138623817
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:135731960:TATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATA=0./0
(
ALFA)
-=0.125/5
(GENOME_DK)
- HGVS:
NC_000009.12:g.135731961TA[5], NC_000009.12:g.135731961TA[6], NC_000009.12:g.135731961TA[7], NC_000009.12:g.135731961TA[8], NC_000009.12:g.135731961TA[9], NC_000009.12:g.135731961TA[10], NC_000009.12:g.135731961TA[11], NC_000009.12:g.135731961TA[12], NC_000009.12:g.135731961TA[13], NC_000009.12:g.135731961TA[14], NC_000009.12:g.135731961TA[15], NC_000009.12:g.135731961TA[17], NC_000009.12:g.135731961TA[18], NC_000009.12:g.135731961TA[19], NC_000009.12:g.135731961TA[20], NC_000009.12:g.135731961TA[21], NC_000009.12:g.135731961TA[22], NC_000009.12:g.135731961TA[23], NC_000009.12:g.135731961TA[24], NC_000009.12:g.135731961TA[25], NC_000009.12:g.135731961TA[26], NC_000009.12:g.135731961TA[27], NC_000009.12:g.135731961TA[28], NC_000009.12:g.135731961TA[30], NC_000009.11:g.138623807TA[5], NC_000009.11:g.138623807TA[6], NC_000009.11:g.138623807TA[7], NC_000009.11:g.138623807TA[8], NC_000009.11:g.138623807TA[9], NC_000009.11:g.138623807TA[10], NC_000009.11:g.138623807TA[11], NC_000009.11:g.138623807TA[12], NC_000009.11:g.138623807TA[13], NC_000009.11:g.138623807TA[14], NC_000009.11:g.138623807TA[15], NC_000009.11:g.138623807TA[17], NC_000009.11:g.138623807TA[18], NC_000009.11:g.138623807TA[19], NC_000009.11:g.138623807TA[20], NC_000009.11:g.138623807TA[21], NC_000009.11:g.138623807TA[22], NC_000009.11:g.138623807TA[23], NC_000009.11:g.138623807TA[24], NC_000009.11:g.138623807TA[25], NC_000009.11:g.138623807TA[26], NC_000009.11:g.138623807TA[27], NC_000009.11:g.138623807TA[28], NC_000009.11:g.138623807TA[30], NG_033070.1:g.34777TA[5], NG_033070.1:g.34777TA[6], NG_033070.1:g.34777TA[7], NG_033070.1:g.34777TA[8], NG_033070.1:g.34777TA[9], NG_033070.1:g.34777TA[10], NG_033070.1:g.34777TA[11], NG_033070.1:g.34777TA[12], NG_033070.1:g.34777TA[13], NG_033070.1:g.34777TA[14], NG_033070.1:g.34777TA[15], NG_033070.1:g.34777TA[17], NG_033070.1:g.34777TA[18], NG_033070.1:g.34777TA[19], NG_033070.1:g.34777TA[20], NG_033070.1:g.34777TA[21], NG_033070.1:g.34777TA[22], NG_033070.1:g.34777TA[23], NG_033070.1:g.34777TA[24], NG_033070.1:g.34777TA[25], NG_033070.1:g.34777TA[26], NG_033070.1:g.34777TA[27], NG_033070.1:g.34777TA[28], NG_033070.1:g.34777TA[30]
17.
rs1491231718 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 9:135785778
(GRCh38)
9:138677625
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135785778::T
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1491215563 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 9:135769033
(GRCh38)
9:138660880
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135769033::CG
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CG=0.000169/2
(
ALFA)
CG=0.000072/8
(GnomAD)
CG=0.000321/9
(TOMMO)
- HGVS:
19.
rs1491195440 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 9:135726760
(GRCh38)
9:138618606
(GRCh37)
- Canonical SPDI:
- NC_000009.12:135726758:CCC:C
- Gene:
- KCNT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00004/4
(GnomAD)
-=0.00024/5
(TOMMO)
- HGVS: