Links from Gene
Items: 1 to 20 of 3972
2.
rs1491186371 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 14:94002852
(GRCh38)
14:94469199
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94002852:A:AGA
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGA=0./0
(
ALFA)
AG=0.00003/1
(GnomAD)
- HGVS:
3.
rs1491089613 has merged into rs34620720 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 14:94006368
(GRCh38)
14:94472714
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94006356:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:94006356:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:94006356:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:94006356:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:94006356:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:94006356:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.20766/770
(TWINSUK)
-=0.22055/850
(ALSPAC)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000014.9:g.94006368_94006370del, NC_000014.9:g.94006369_94006370del, NC_000014.9:g.94006370del, NC_000014.9:g.94006370dup, NC_000014.9:g.94006369_94006370dup, NC_000014.9:g.94006368_94006370dup, NT_187601.1:g.1120930_1120932del, NT_187601.1:g.1120931_1120932del, NT_187601.1:g.1120932del, NT_187601.1:g.1120932dup, NT_187601.1:g.1120931_1120932dup, NT_187601.1:g.1120930_1120932dup, NC_000014.8:g.94472714_94472716del, NC_000014.8:g.94472715_94472716del, NC_000014.8:g.94472716del, NC_000014.8:g.94472716dup, NC_000014.8:g.94472715_94472716dup, NC_000014.8:g.94472714_94472716dup
4.
rs1490808294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:94005985
(GRCh38)
14:94472331
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94005984:G:A
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490770964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:94007765
(GRCh38)
14:94474111
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94007764:C:A,NC_000014.9:94007764:C:T
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_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:
6.
rs1490722883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:94004089
(GRCh38)
14:94470435
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94004088:A:C
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490607698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:94006655
(GRCh38)
14:94473001
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94006654:C:A
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000162/3
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000022/3
(GnomAD)
A=0.00067/3
(Estonian)
- HGVS:
9.
rs1490351918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:93998870
(GRCh38)
14:94465216
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93998869:C:A
- Gene:
- CCDC197 (Varview), LOC124903368 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.005818/17
(KOREAN)
A=0.008671/145
(TOMMO)
- HGVS:
10.
rs1490210951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:93999260
(GRCh38)
14:94465606
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93999259:T:C
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
11.
rs1489828293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:94006745
(GRCh38)
14:94473091
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94006744:T:C
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
12.
rs1489764514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:93997821
(GRCh38)
14:94464167
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93997820:G:T
- Gene:
- CCDC197 (Varview), LOC124903368 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489503348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 14:94002873
(GRCh38)
14:94469219
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94002872:T:A,NC_000014.9:94002872:T:G
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00086/14
(
ALFA)
A=0.0011/31
(TOMMO)
A=0.00156/7
(Estonian)
T=0.5/3
(SGDP_PRJ)
- HGVS:
14.
rs1489498416 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTTTTTGC
[Show Flanks]
- Chromosome:
- 14:94007246
(GRCh38)
14:94473593
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94007246:AGTTTTTGC:AGTTTTTGCAGTTTTTGC
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGTTTTTGCAGTTTTTGC=0.000071/1
(
ALFA)
AGTTTTTGC=0.000008/2
(TOPMED)
AGTTTTTGC=0.000021/3
(GnomAD)
- HGVS:
15.
rs1489466423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:94006334
(GRCh38)
14:94472680
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94006333:A:C,NC_000014.9:94006333:A:G
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489352966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:94005695
(GRCh38)
14:94472041
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94005694:C:A,NC_000014.9:94005694:C:T
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000318/6
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.001339/6
(Estonian)
- HGVS:
17.
rs1488274506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:94000161
(GRCh38)
14:94466507
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94000160:A:C,NC_000014.9:94000160:A:G
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488186396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:94010364
(GRCh38)
14:94476710
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94010363:T:A
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487965794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 14:94008700
(GRCh38)
14:94475046
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94008699:A:G,NC_000014.9:94008699:A:T
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.94008700A>G, NC_000014.9:g.94008700A>T, NT_187601.1:g.1123262A>G, NT_187601.1:g.1123262A>T, NC_000014.8:g.94475046A>G, NC_000014.8:g.94475046A>T, NM_152777.2:c.*271A>G, NM_152777.2:c.*271A>T, NM_001351596.2:c.707A>G, NM_001351596.2:c.707A>T, NM_001351596.1:c.707A>G, NM_001351596.1:c.707A>T, NR_024184.2:n.1107A>G, NR_024184.2:n.1107A>T, NR_024184.1:n.1112A>G, NR_024184.1:n.1112A>T, XM_024449524.2:c.707A>G, XM_024449524.2:c.707A>T, XM_024449524.1:c.707A>G, XM_024449524.1:c.707A>T, XM_024449525.2:c.707A>G, XM_024449525.2:c.707A>T, XM_024449525.1:c.707A>G, XM_024449525.1:c.707A>T, XM_047431185.1:c.803A>G, XM_047431185.1:c.803A>T, NM_152777.1:c.*271A>G, NM_152777.1:c.*271A>T, XM_047431191.1:c.620A>G, XM_047431191.1:c.620A>T, XM_047431197.1:c.395A>G, XM_047431197.1:c.395A>T, XM_047431193.1:c.620A>G, XM_047431193.1:c.620A>T, XM_047431196.1:c.404A>G, XM_047431196.1:c.404A>T, XM_047431183.1:c.803A>G, XM_047431183.1:c.803A>T, XM_047431194.1:c.803A>G, XM_047431194.1:c.803A>T, XM_047431186.1:c.803A>G, XM_047431186.1:c.803A>T, XM_047431184.1:c.803A>G, XM_047431184.1:c.803A>T, XM_047431189.1:c.707A>G, XM_047431189.1:c.707A>T, XM_047431187.1:c.803A>G, XM_047431187.1:c.803A>T, XM_047431188.1:c.707A>G, XM_047431188.1:c.707A>T, NP_001338525.1:p.Gln236Arg, NP_001338525.1:p.Gln236Leu, XP_024305292.1:p.Gln236Arg, XP_024305292.1:p.Gln236Leu, XP_024305293.1:p.Gln236Arg, XP_024305293.1:p.Gln236Leu, XP_047287141.1:p.Gln268Arg, XP_047287141.1:p.Gln268Leu, XP_047287147.1:p.Gln207Arg, XP_047287147.1:p.Gln207Leu, XP_047287153.1:p.Gln132Arg, XP_047287153.1:p.Gln132Leu, XP_047287149.1:p.Gln207Arg, XP_047287149.1:p.Gln207Leu, XP_047287152.1:p.Gln135Arg, XP_047287152.1:p.Gln135Leu, XP_047287139.1:p.Gln268Arg, XP_047287139.1:p.Gln268Leu, XP_047287150.1:p.Gln268Arg, XP_047287150.1:p.Gln268Leu, XP_047287142.1:p.Gln268Arg, XP_047287142.1:p.Gln268Leu, XP_047287140.1:p.Gln268Arg, XP_047287140.1:p.Gln268Leu, XP_047287145.1:p.Gln236Arg, XP_047287145.1:p.Gln236Leu, XP_047287143.1:p.Gln268Arg, XP_047287143.1:p.Gln268Leu, XP_047287144.1:p.Gln236Arg, XP_047287144.1:p.Gln236Leu
20.
rs1487900840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:94008297
(GRCh38)
14:94474643
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94008296:G:A
- Gene:
- CCDC197 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: