Links from Gene
Items: 1 to 20 of 1000
1.
rs1491500832 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 16:2210062
(GRCh38)
16:2260063
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2210061:AG:
- Gene:
- BRICD5 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000012/1
(ExAC)
- HGVS:
2.
rs1490648924 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCAG>-,GCAGGCAG
[Show Flanks]
- Chromosome:
- 16:2211359
(GRCh38)
16:2261360
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2211355:CAGGCAG:CAG,NC_000016.10:2211355:CAGGCAG:CAGGCAGGCAG
- Gene:
- BRICD5 (Varview), PGP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAGGCAGGCAG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
3.
rs1489979478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2214652
(GRCh38)
16:2264653
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2214651:C:T
- Gene:
- PGP (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489200319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2213263
(GRCh38)
16:2263264
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2213262:C:T
- Gene:
- PGP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489175613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2211236
(GRCh38)
16:2261237
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2211235:C:T
- Gene:
- BRICD5 (Varview), PGP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
6.
rs1489108925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2212822
(GRCh38)
16:2262823
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2212821:C:T
- Gene:
- BRICD5 (Varview), PGP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488858085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:2210217
(GRCh38)
16:2260218
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2210216:A:G
- Gene:
- BRICD5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488487776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2209857
(GRCh38)
16:2259858
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2209856:G:A
- Gene:
- MLST8 (Varview), BRICD5 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1488136595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:2212546
(GRCh38)
16:2262548
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2212546:G:GG
- Gene:
- BRICD5 (Varview), PGP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1487956962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:2209544
(GRCh38)
16:2259545
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2209543:C:G,NC_000016.10:2209543:C:T
- Gene:
- MLST8 (Varview), BRICD5 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487753737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2210697
(GRCh38)
16:2260698
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2210696:G:A
- Gene:
- BRICD5 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1487411297 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:2214149
(GRCh38)
16:2264150
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2214148:C:A
- Gene:
- PGP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
14.
rs1487156650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:2214644
(GRCh38)
16:2264645
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2214643:G:C
- Gene:
- PGP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000013/1
(GnomAD_exomes)
- HGVS:
15.
rs1487145468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:2215029
(GRCh38)
16:2265030
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2215028:C:G
- Gene:
- PGP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1486967537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2209755
(GRCh38)
16:2259756
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2209754:C:T
- Gene:
- MLST8 (Varview), BRICD5 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000005/1
(GnomAD_exomes)
- HGVS:
17.
rs1486889771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 16:2214438
(GRCh38)
16:2264439
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2214437:C:A,NC_000016.10:2214437:C:G,NC_000016.10:2214437:C:T
- Gene:
- PGP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.2214438C>A, NC_000016.10:g.2214438C>G, NC_000016.10:g.2214438C>T, NC_000016.9:g.2264439C>A, NC_000016.9:g.2264439C>G, NC_000016.9:g.2264439C>T, NM_001042371.3:c.340G>T, NM_001042371.3:c.340G>C, NM_001042371.3:c.340G>A, NM_001042371.2:c.340G>T, NM_001042371.2:c.340G>C, NM_001042371.2:c.340G>A, NP_001035830.1:p.Ala114Ser, NP_001035830.1:p.Ala114Pro, NP_001035830.1:p.Ala114Thr
18.
rs1486858995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:2211684
(GRCh38)
16:2261685
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2211683:T:G
- Gene:
- BRICD5 (Varview), PGP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1485555999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2211309
(GRCh38)
16:2261310
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2211308:G:A
- Gene:
- BRICD5 (Varview), PGP (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1485435240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 16:2208856
(GRCh38)
16:2258858
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2208856:AA:AAA
- Gene:
- MLST8 (Varview), BRICD5 (Varview)
- Functional Consequence:
- frameshift_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000016.10:g.2208858dup, NC_000016.9:g.2258859dup, NM_022372.6:c.962dup, NM_022372.5:c.962dup, NM_022372.4:c.962dup, XM_005255475.4:c.1193dup, XM_005255475.3:c.1037dup, XM_005255475.2:c.1037dup, XM_005255475.1:c.1193dup, NM_001199174.3:c.962dup, NM_001199174.2:c.962dup, NM_001199174.1:c.962dup, NM_001199175.3:c.959dup, NM_001199175.2:c.959dup, NM_001199175.1:c.959dup, XM_005255479.3:c.980dup, XM_005255479.2:c.980dup, XM_005255479.1:c.980dup, NM_001199173.3:c.962dup, NM_001199173.2:c.962dup, NM_001199173.1:c.962dup, NR_147905.2:n.1755dup, NR_147905.1:n.2032dup, NR_147904.2:n.1725dup, NR_147904.1:n.2002dup, NR_147907.2:n.1284dup, NR_147907.1:n.1013dup, NM_001352059.2:c.764dup, NM_001352059.1:c.764dup, NM_001352060.2:c.764dup, NM_001352060.1:c.764dup, NM_001352057.2:c.980dup, NM_001352057.1:c.980dup, NR_147906.2:n.951dup, NR_147906.1:n.1228dup, XM_047434466.1:c.1175dup, NP_071767.3:p.Asn321fs, XP_005255532.3:p.Asn398fs, NP_001186103.1:p.Asn321fs, NP_001186104.1:p.Asn320fs, XP_005255536.1:p.Asn327fs, NP_001186102.1:p.Asn321fs, NP_001338988.1:p.Asn255fs, NP_001338989.1:p.Asn255fs, NP_001338986.1:p.Asn327fs, XP_047290422.1:p.Asn392fs