Links from Gene
Items: 1 to 20 of 3524
2.
rs1491474502 has merged into rs749242089 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:49865609
(GRCh38)
19:50368866
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49865601:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PNKP (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- likely-benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.125/5
(GENOME_DK)
- HGVS:
NC_000019.10:g.49865609_49865625del, NC_000019.10:g.49865612_49865625del, NC_000019.10:g.49865613_49865625del, NC_000019.10:g.49865614_49865625del, NC_000019.10:g.49865615_49865625del, NC_000019.10:g.49865616_49865625del, NC_000019.10:g.49865617_49865625del, NC_000019.10:g.49865618_49865625del, NC_000019.10:g.49865619_49865625del, NC_000019.10:g.49865620_49865625del, NC_000019.10:g.49865621_49865625del, NC_000019.10:g.49865622_49865625del, NC_000019.10:g.49865623_49865625del, NC_000019.10:g.49865624_49865625del, NC_000019.10:g.49865625del, NC_000019.10:g.49865625dup, NC_000019.10:g.49865624_49865625dup, NC_000019.10:g.49865623_49865625dup, NC_000019.10:g.49865622_49865625dup, NC_000019.10:g.49865621_49865625dup, NC_000019.10:g.49865620_49865625dup, NC_000019.10:g.49865625_49865626insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.49865625_49865626insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.49865625_49865626insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50368866_50368882del, NC_000019.9:g.50368869_50368882del, NC_000019.9:g.50368870_50368882del, NC_000019.9:g.50368871_50368882del, NC_000019.9:g.50368872_50368882del, NC_000019.9:g.50368873_50368882del, NC_000019.9:g.50368874_50368882del, NC_000019.9:g.50368875_50368882del, NC_000019.9:g.50368876_50368882del, NC_000019.9:g.50368877_50368882del, NC_000019.9:g.50368878_50368882del, NC_000019.9:g.50368879_50368882del, NC_000019.9:g.50368880_50368882del, NC_000019.9:g.50368881_50368882del, NC_000019.9:g.50368882del, NC_000019.9:g.50368882dup, NC_000019.9:g.50368881_50368882dup, NC_000019.9:g.50368880_50368882dup, NC_000019.9:g.50368879_50368882dup, NC_000019.9:g.50368878_50368882dup, NC_000019.9:g.50368877_50368882dup, NC_000019.9:g.50368882_50368883insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50368882_50368883insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50368882_50368883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027717.1:g.6948_6964del, NG_027717.1:g.6951_6964del, NG_027717.1:g.6952_6964del, NG_027717.1:g.6953_6964del, NG_027717.1:g.6954_6964del, NG_027717.1:g.6955_6964del, NG_027717.1:g.6956_6964del, NG_027717.1:g.6957_6964del, NG_027717.1:g.6958_6964del, NG_027717.1:g.6959_6964del, NG_027717.1:g.6960_6964del, NG_027717.1:g.6961_6964del, NG_027717.1:g.6962_6964del, NG_027717.1:g.6963_6964del, NG_027717.1:g.6964del, NG_027717.1:g.6964dup, NG_027717.1:g.6963_6964dup, NG_027717.1:g.6962_6964dup, NG_027717.1:g.6961_6964dup, NG_027717.1:g.6960_6964dup, NG_027717.1:g.6959_6964dup, NG_027717.1:g.6964_6965insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027717.1:g.6964_6965insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027717.1:g.6964_6965insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491307538 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:49860934
(GRCh38)
19:50364192
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49860934:GGGG:GGGGG
- Gene:
- PNKP (Varview), PTOV1 (Varview), PTOV1-AS2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
G=0.00003/8
(TOPMED)
G=0.000036/5
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
5.
rs1491203401 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 19:49869383
(GRCh38)
19:50372641
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49869383:AAA:AAAA
- Gene:
- PNKP (Varview), AKT1S1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.49869386dup, NC_000019.9:g.50372643dup, NG_027717.1:g.3182dup, NM_032375.5:c.*533dup, NM_001098633.4:c.*533dup, NM_001098633.3:c.*533dup, NM_001278159.2:c.*533dup, NM_001278159.1:c.*533dup, NM_001098632.2:c.*533dup, NM_001278160.2:c.*533dup, NM_001278160.1:c.*533dup
6.
rs1490864164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:49861504
(GRCh38)
19:50364761
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49861503:C:T
- Gene:
- PNKP (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490718251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:49867906
(GRCh38)
19:50371163
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49867905:G:A,NC_000019.10:49867905:G:T
- Gene:
- PNKP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490712809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:49868668
(GRCh38)
19:50371925
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49868667:C:A
- Gene:
- PNKP (Varview), AKT1S1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489897200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:49869120
(GRCh38)
19:50372377
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49869119:A:G
- Gene:
- PNKP (Varview), AKT1S1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.49869120A>G, NC_000019.9:g.50372377A>G, NG_027717.1:g.3446T>C, NM_032375.5:c.*797T>C, NM_001098633.4:c.*797T>C, NM_001098633.3:c.*797T>C, NM_001278159.2:c.*797T>C, NM_001278159.1:c.*797T>C, NM_001098632.2:c.*797T>C, NM_001278160.2:c.*797T>C, NM_001278160.1:c.*797T>C
11.
rs1489804605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:49862984
(GRCh38)
19:50366241
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49862983:G:A,NC_000019.10:49862983:G:T
- Gene:
- PNKP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00006/1
(TOMMO)
- HGVS:
12.
rs1489414430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 19:49866307
(GRCh38)
19:50369564
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49866306:G:C,NC_000019.10:49866306:G:T
- Gene:
- PNKP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488738147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:49869126
(GRCh38)
19:50372383
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49869125:G:A
- Gene:
- PNKP (Varview), AKT1S1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000019.10:g.49869126G>A, NC_000019.9:g.50372383G>A, NG_027717.1:g.3440C>T, NM_032375.5:c.*791C>T, NM_001098633.4:c.*791C>T, NM_001098633.3:c.*791C>T, NM_001278159.2:c.*791C>T, NM_001278159.1:c.*791C>T, NM_001098632.2:c.*791C>T, NM_001278160.2:c.*791C>T, NM_001278160.1:c.*791C>T
14.
rs1488715255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:49869376
(GRCh38)
19:50372633
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49869375:C:T
- Gene:
- PNKP (Varview), AKT1S1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000285/4
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000045/12
(TOPMED)
- HGVS:
NC_000019.10:g.49869376C>T, NC_000019.9:g.50372633C>T, NG_027717.1:g.3190G>A, NM_032375.5:c.*541G>A, NM_001098633.4:c.*541G>A, NM_001098633.3:c.*541G>A, NM_001278159.2:c.*541G>A, NM_001278159.1:c.*541G>A, NM_001098632.2:c.*541G>A, NM_001278160.2:c.*541G>A, NM_001278160.1:c.*541G>A
15.
rs1488660891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:49861831
(GRCh38)
19:50365088
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49861830:C:T
- Gene:
- PNKP (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Clinical significance:
- likely-benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000005/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488577824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:49861337
(GRCh38)
19:50364594
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49861336:C:T
- Gene:
- PNKP (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Clinical significance:
- uncertain-significance
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
17.
rs1488381495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:49868552
(GRCh38)
19:50371809
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49868551:C:A,NC_000019.10:49868551:C:T
- Gene:
- PNKP (Varview), AKT1S1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
18.
rs1488369728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:49869440
(GRCh38)
19:50372697
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49869439:G:A
- Gene:
- PNKP (Varview), AKT1S1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.49869440G>A, NC_000019.9:g.50372697G>A, NG_027717.1:g.3126C>T, NM_032375.5:c.*477C>T, NM_001098633.4:c.*477C>T, NM_001098633.3:c.*477C>T, NM_001278159.2:c.*477C>T, NM_001278159.1:c.*477C>T, NM_001098632.2:c.*477C>T, NM_001278160.2:c.*477C>T, NM_001278160.1:c.*477C>T
19.
rs1488274497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 19:49865638
(GRCh38)
19:50368895
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49865637:T:C,NC_000019.10:49865637:T:G
- Gene:
- PNKP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
20.
rs1488138163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:49861539
(GRCh38)
19:50364796
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49861538:C:T
- Gene:
- PNKP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS: