Links from Gene
Items: 1 to 20 of 1387
1.
rs1491477577 has merged into rs746326926 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- X:7842988
(GRCh38)
X:7811029
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC
- Gene:
- VCX (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCC=0.00057/6
(
ALFA)
-=0.20588/7
(GENOME_DK)
- HGVS:
NC_000023.11:g.7842988_7842990del, NC_000023.11:g.7842989_7842990del, NC_000023.11:g.7842990del, NC_000023.11:g.7842990dup, NC_000023.11:g.7842989_7842990dup, NC_000023.11:g.7842988_7842990dup, NC_000023.11:g.7842984_7842990dup, NC_000023.11:g.7842982_7842990dup, NC_000023.11:g.7842990_7842991insCCCCCCCCCCCC, NC_000023.10:g.7811029_7811031del, NC_000023.10:g.7811030_7811031del, NC_000023.10:g.7811031del, NC_000023.10:g.7811031dup, NC_000023.10:g.7811030_7811031dup, NC_000023.10:g.7811029_7811031dup, NC_000023.10:g.7811025_7811031dup, NC_000023.10:g.7811023_7811031dup, NC_000023.10:g.7811031_7811032insCCCCCCCCCCCC ...more
2.
rs1491474542 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- X:7841303
(GRCh38)
X:7809344
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7841302:GA:
- Gene:
- VCX (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00006/5
(GnomAD)
- HGVS:
3.
rs1491089952 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC,GC
[Show Flanks]
- Chromosome:
- X:7842980
(GRCh38)
X:7811022
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7842980:C:CAC,NC_000023.11:7842980:C:CGC
- Gene:
- VCX (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGC=0./0
(
ALFA)
CG=0.03698/390
(TOMMO)
- HGVS:
5.
rs1490123253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:7842589
(GRCh38)
X:7810630
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7842588:T:G
- Gene:
- VCX (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000029/3
(GnomAD)
...more- HGVS:
6.
rs1489993484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- X:7843304
(GRCh38)
X:7811345
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7843303:A:C,NC_000023.11:7843303:A:T
- Gene:
- VCX (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- HGVS:
NC_000023.11:g.7843304A>C, NC_000023.11:g.7843304A>T, NC_000023.10:g.7811345A>C, NC_000023.10:g.7811345A>T, XM_011545490.4:c.101A>C, XM_011545490.4:c.101A>T, XM_011545490.3:c.101A>C, XM_011545490.3:c.101A>T, XM_011545490.2:c.101A>C, XM_011545490.2:c.101A>T, XM_011545490.1:c.101A>C, XM_011545490.1:c.101A>T, NM_013452.3:c.101A>C, NM_013452.3:c.101A>T, NM_013452.2:c.101A>C, NM_013452.2:c.101A>T, NM_001393662.1:c.101A>C, NM_001393662.1:c.101A>T, XP_011543792.1:p.Lys34Thr, XP_011543792.1:p.Lys34Met, NP_038480.2:p.Lys34Thr, NP_038480.2:p.Lys34Met, NP_001380591.1:p.Lys34Thr, NP_001380591.1:p.Lys34Met ...more
7.
rs1489865626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- X:7843824
(GRCh38)
X:7811865
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7843823:A:C,NC_000023.11:7843823:A:G
- Gene:
- VCX (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000023.11:g.7843824A>C, NC_000023.11:g.7843824A>G, NC_000023.10:g.7811865A>C, NC_000023.10:g.7811865A>G, XM_011545490.4:c.429A>C, XM_011545490.4:c.429A>G, XM_011545490.3:c.429A>C, XM_011545490.3:c.429A>G, XM_011545490.2:c.429A>C, XM_011545490.2:c.429A>G, XM_011545490.1:c.429A>C, XM_011545490.1:c.429A>G, NM_013452.3:c.429A>C, NM_013452.3:c.429A>G, NM_013452.2:c.429A>C, NM_013452.2:c.429A>G, NM_001393662.1:c.429A>C, NM_001393662.1:c.429A>G ...more
9.
rs1489783566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:7840836
(GRCh38)
X:7808877
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7840835:A:G
- Gene:
- VCX (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.00003/8
(TOPMED)
...more- HGVS:
10.
rs1488785945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:7841280
(GRCh38)
X:7809321
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7841279:A:G
- Gene:
- VCX (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000041/4
(GnomAD)
...more- HGVS:
11.
rs1488107495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:7841357
(GRCh38)
X:7809398
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7841356:A:G
- Gene:
- VCX (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000019/2
(GnomAD)
...more- HGVS:
12.
rs1487733665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:7844581
(GRCh38)
X:7812622
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7844580:G:C
- Gene:
- VCX (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
13.
rs1487536842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- X:7843898
(GRCh38)
X:7811939
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7843897:G:A,NC_000023.11:7843897:G:C
- Gene:
- VCX (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.00002/1
(GnomAD)
- HGVS:
NC_000023.11:g.7843898G>A, NC_000023.11:g.7843898G>C, NC_000023.10:g.7811939G>A, NC_000023.10:g.7811939G>C, XM_011545490.4:c.503G>A, XM_011545490.4:c.503G>C, XM_011545490.3:c.503G>A, XM_011545490.3:c.503G>C, XM_011545490.2:c.503G>A, XM_011545490.2:c.503G>C, XM_011545490.1:c.503G>A, XM_011545490.1:c.503G>C, NM_013452.3:c.503G>A, NM_013452.3:c.503G>C, NM_013452.2:c.503G>A, NM_013452.2:c.503G>C, NM_001393662.1:c.503G>A, NM_001393662.1:c.503G>C, XP_011543792.1:p.Ser168Asn, XP_011543792.1:p.Ser168Thr, NP_038480.2:p.Ser168Asn, NP_038480.2:p.Ser168Thr, NP_001380591.1:p.Ser168Asn, NP_001380591.1:p.Ser168Thr ...more
14.
rs1486231815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAGGAAAGAAGGAAGGAACAAGTGGTATGTGGGGAGGGAG>-
[Show Flanks]
- Chromosome:
- X:7844556
(GRCh38)
X:7812597
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7844542:TGTGGGGAGGGAGAAAGGAAAGAAGGAAGGAACAAGTGGTATGTGGGGAGGGAG:TGTGGGGAGGGAG
- Gene:
- VCX (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGGGGAGGGAG=0./0
(
ALFA)
-=0.00169/20
(TOMMO)
- HGVS:
15.
rs1485870371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- X:7843148
(GRCh38)
X:7811189
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7843147:G:A,NC_000023.11:7843147:G:C
- Gene:
- VCX (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000011/1
(GnomAD)
...more- HGVS:
NC_000023.11:g.7843148G>A, NC_000023.11:g.7843148G>C, NC_000023.10:g.7811189G>A, NC_000023.10:g.7811189G>C, XM_011545490.4:c.-56G>A, XM_011545490.4:c.-56G>C, XM_011545490.3:c.-56G>A, XM_011545490.3:c.-56G>C, XM_011545490.2:c.-56G>A, XM_011545490.2:c.-56G>C, XM_011545490.1:c.-56G>A, XM_011545490.1:c.-56G>C, NM_013452.3:c.-56G>A, NM_013452.3:c.-56G>C, NM_013452.2:c.-56G>A, NM_013452.2:c.-56G>C ...more
16.
rs1485585439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:7844634
(GRCh38)
X:7812675
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7844633:G:A
- Gene:
- VCX (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000285/4
(
ALFA)
A=0.000344/91
(TOPMED)
A=0.000364/35
(GnomAD)
...more- HGVS:
18.
rs1484091235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:7841850
(GRCh38)
X:7809891
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7841849:T:A
- Gene:
- VCX (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
...more- HGVS:
20.
rs1483705429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- X:7842405
(GRCh38)
X:7810446
(GRCh37)
- Canonical SPDI:
- NC_000023.11:7842403:GAG:G
- Gene:
- VCX (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.00025/3
(
ALFA)
-=0.00145/32
(TOMMO)
- HGVS: