Links from Gene
Items: 1 to 20 of 30611
2.
rs1491480187 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTAGATCTAGATCTCTAGATCTAGAGATATCT>-,CTAGATCTAGATCTCTAGATCTAGAGATATCTCTAGATCTAGATCTCTAGATCTAGAGATATCT
[Show Flanks]
- Chromosome:
- 6:108989547
(GRCh38)
6:109310750
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108989535:TAGAGATATCTCTAGATCTAGATCTCTAGATCTAGAGATATCT:TAGAGATATCT,NC_000006.12:108989535:TAGAGATATCTCTAGATCTAGATCTCTAGATCTAGAGATATCT:TAGAGATATCTCTAGATCTAGATCTCTAGATCTAGAGATATCTCTAGATCTAGATCTCTAGATCTAGAGATATCT
- Gene:
- SESN1 (Varview), ARMC2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.108989547_108989578del, NC_000006.12:g.108989547_108989578dup, NC_000006.11:g.109310750_109310781del, NC_000006.11:g.109310750_109310781dup, NG_029518.1:g.109939_109970del, NG_029518.1:g.109939_109970dup, XM_011536168.4:c.*729_*760del, XM_011536168.4:c.*729_*760dup, XM_011536168.2:c.*729_*760del, XM_011536168.2:c.*729_*760dup, XM_011536168.1:c.*729_*760del, XM_011536168.1:c.*729_*760dup
3.
rs1491473832 has merged into rs5879006 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCA>-,TCATCA
[Show Flanks]
- Chromosome:
- 6:108986083
(GRCh38)
6:109307286
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108986078:ATCATCA:ATCA,NC_000006.12:108986078:ATCATCA:ATCATCATCA
- Gene:
- SESN1 (Varview), ARMC2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATCA=0.03687/584
(
ALFA)
-=0.01869/4
(Vietnamese)
-=0.05701/955
(TOMMO)
-=0.09416/472
(1000Genomes)
-=0.0992/99
(GoNL)
-=0.1178/454
(ALSPAC)
-=0.12902/578
(Estonian)
-=0.13167/79
(NorthernSweden)
-=0.13323/494
(TWINSUK)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000006.12:g.108986080TCA[1], NC_000006.12:g.108986080TCA[3], NC_000006.11:g.109307283TCA[1], NC_000006.11:g.109307283TCA[3], NG_029518.1:g.113422GAT[1], NG_029518.1:g.113422GAT[3], NM_014454.3:c.*1460GAT[1], NM_014454.3:c.*1460GAT[3], NM_001199934.2:c.*1460GAT[1], NM_001199934.2:c.*1460GAT[3], NM_001199933.2:c.*1460GAT[1], NM_001199933.2:c.*1460GAT[3]
4.
rs1491433709 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:108989536
(GRCh38)
6:109310739
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108989534:ATA:A
- Gene:
- SESN1 (Varview), ARMC2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00015/14
(GnomAD)
- HGVS:
6.
rs1491354168 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:108860004
(GRCh38)
6:109181207
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108860003:TA:
- Gene:
- ARMC2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
7.
rs1491340741 has merged into rs140061937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:108860018
(GRCh38)
6:109181221
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108860004:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:108860004:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:108860004:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:108860004:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:108860004:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:108860004:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:108860004:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108860004:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARMC2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.15719/94
(NorthernSweden)
-=0.3647/6108
(TOMMO)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000006.12:g.108860018_108860022del, NC_000006.12:g.108860020_108860022del, NC_000006.12:g.108860021_108860022del, NC_000006.12:g.108860022del, NC_000006.12:g.108860022dup, NC_000006.12:g.108860021_108860022dup, NC_000006.12:g.108860016_108860022dup, NC_000006.12:g.108860012_108860022dup, NC_000006.11:g.109181221_109181225del, NC_000006.11:g.109181223_109181225del, NC_000006.11:g.109181224_109181225del, NC_000006.11:g.109181225del, NC_000006.11:g.109181225dup, NC_000006.11:g.109181224_109181225dup, NC_000006.11:g.109181219_109181225dup, NC_000006.11:g.109181215_109181225dup
8.
rs1491307982 has merged into rs35329057 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG,GGG,GGGG
[Show Flanks]
- Chromosome:
- 6:108908139
(GRCh38)
6:109229342
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108908138:GGGGGGGG:GGGGGGG,NC_000006.12:108908138:GGGGGGGG:GGGGGGGGG,NC_000006.12:108908138:GGGGGGGG:GGGGGGGGGG,NC_000006.12:108908138:GGGGGGGG:GGGGGGGGGGG
- Gene:
- ARMC2 (Varview), ARMC2-AS1 (Varview), LOC124901481 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGG=0.0012/10
(
ALFA)
-=0.2285/950
(1000Genomes)
- HGVS:
9.
rs1491287086 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:108986272
(GRCh38)
6:109307475
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108986270:AGA:A
- Gene:
- SESN1 (Varview), ARMC2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1491285443 has merged into rs75020781 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 6:108991073
(GRCh38)
6:109312276
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108991066:AAAAAAAAA:AAAAAA,NC_000006.12:108991066:AAAAAAAAA:AAAAAAAA,NC_000006.12:108991066:AAAAAAAAA:AAAAAAAAAA,NC_000006.12:108991066:AAAAAAAAA:AAAAAAAAAAA,NC_000006.12:108991066:AAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:108991066:AAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:108991066:AAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- SESN1 (Varview), ARMC2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.00053/15
(TOMMO)
- HGVS:
NC_000006.12:g.108991073_108991075del, NC_000006.12:g.108991075del, NC_000006.12:g.108991075dup, NC_000006.12:g.108991074_108991075dup, NC_000006.12:g.108991073_108991075dup, NC_000006.12:g.108991072_108991075dup, NC_000006.12:g.108991071_108991075dup, NC_000006.11:g.109312276_109312278del, NC_000006.11:g.109312278del, NC_000006.11:g.109312278dup, NC_000006.11:g.109312277_109312278dup, NC_000006.11:g.109312276_109312278dup, NC_000006.11:g.109312275_109312278dup, NC_000006.11:g.109312274_109312278dup, NG_029518.1:g.108437_108439del, NG_029518.1:g.108439del, NG_029518.1:g.108439dup, NG_029518.1:g.108438_108439dup, NG_029518.1:g.108437_108439dup, NG_029518.1:g.108436_108439dup, NG_029518.1:g.108435_108439dup, XM_011536168.4:c.*2255_*2257del, XM_011536168.4:c.*2257del, XM_011536168.4:c.*2257dup, XM_011536168.4:c.*2256_*2257dup, XM_011536168.4:c.*2255_*2257dup, XM_011536168.4:c.*2254_*2257dup, XM_011536168.4:c.*2253_*2257dup
11.
rs1491282298 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTGTAACACCGTGCTACT
[Show Flanks]
- Chromosome:
- 6:108966479
(GRCh38)
6:109287683
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108966479:TGTTGTAACACCGTGCTACT:TGTTGTAACACCGTGCTACTGTTGTAACACCGTGCTACT
- Gene:
- ARMC2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTTGTAACACCGTGCTACTGTTGTAACACCGTGCTACT=0./0
(
ALFA)
TGTTGTAACACCGTGCTAC=0.000014/2
(GnomAD)
- HGVS:
12.
rs1491258397 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 6:108986079
(GRCh38)
6:109307282
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108986077:TAT:T,NC_000006.12:108986077:TAT:TATAT
- Gene:
- SESN1 (Varview), ARMC2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
NC_000006.12:g.108986079_108986080del, NC_000006.12:g.108986079_108986080dup, NC_000006.11:g.109307282_109307283del, NC_000006.11:g.109307282_109307283dup, NG_029518.1:g.113427_113428del, NG_029518.1:g.113427_113428dup, NM_014454.3:c.*1465_*1466del, NM_014454.3:c.*1465_*1466dup, NM_001199934.2:c.*1465_*1466del, NM_001199934.2:c.*1465_*1466dup, NM_001199933.2:c.*1465_*1466del, NM_001199933.2:c.*1465_*1466dup
14.
rs1491174510 has merged into rs35329057 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG,GGG,GGGG
[Show Flanks]
- Chromosome:
- 6:108908139
(GRCh38)
6:109229342
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108908138:GGGGGGGG:GGGGGGG,NC_000006.12:108908138:GGGGGGGG:GGGGGGGGG,NC_000006.12:108908138:GGGGGGGG:GGGGGGGGGG,NC_000006.12:108908138:GGGGGGGG:GGGGGGGGGGG
- Gene:
- ARMC2 (Varview), ARMC2-AS1 (Varview), LOC124901481 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGG=0.0012/10
(
ALFA)
-=0.2285/950
(1000Genomes)
- HGVS:
15.
rs1491090175 has merged into rs58943428 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 6:108904655
(GRCh38)
6:109225858
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108904646:AAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:108904646:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:108904646:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:108904646:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:108904646:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:108904646:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:108904646:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:108904646:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- ARMC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AA=0.1975/989
(1000Genomes)
AA=0.375/15
(GENOME_DK)
- HGVS:
NC_000006.12:g.108904655_108904660del, NC_000006.12:g.108904656_108904660del, NC_000006.12:g.108904657_108904660del, NC_000006.12:g.108904658_108904660del, NC_000006.12:g.108904659_108904660del, NC_000006.12:g.108904660del, NC_000006.12:g.108904660dup, NC_000006.12:g.108904659_108904660dup, NC_000006.11:g.109225858_109225863del, NC_000006.11:g.109225859_109225863del, NC_000006.11:g.109225860_109225863del, NC_000006.11:g.109225861_109225863del, NC_000006.11:g.109225862_109225863del, NC_000006.11:g.109225863del, NC_000006.11:g.109225863dup, NC_000006.11:g.109225862_109225863dup
16.
rs1491071106 has merged into rs34646224 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:108926935
(GRCh38)
6:109248138
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108926921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ARMC2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3327/1666
(1000Genomes)
- HGVS:
NC_000006.12:g.108926935_108926937del, NC_000006.12:g.108926936_108926937del, NC_000006.12:g.108926937del, NC_000006.12:g.108926937dup, NC_000006.12:g.108926936_108926937dup, NC_000006.12:g.108926935_108926937dup, NC_000006.12:g.108926934_108926937dup, NC_000006.12:g.108926937_108926938insTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108926937_108926938insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108926937_108926938insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.109248138_109248140del, NC_000006.11:g.109248139_109248140del, NC_000006.11:g.109248140del, NC_000006.11:g.109248140dup, NC_000006.11:g.109248139_109248140dup, NC_000006.11:g.109248138_109248140dup, NC_000006.11:g.109248137_109248140dup, NC_000006.11:g.109248140_109248141insTTTTTTTTTTTTTTTTTT, NC_000006.11:g.109248140_109248141insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.109248140_109248141insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
17.
rs1491068528 has merged into rs67505412 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 6:108918495
(GRCh38)
6:109239698
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108918482:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:108918482:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:108918482:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:108918482:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:108918482:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:108918482:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- ARMC2 (Varview), ARMC2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.18635/691
(TWINSUK)
-=0.21121/814
(ALSPAC)
T=0.30416/358
(1000Genomes)
- HGVS:
NC_000006.12:g.108918495_108918496del, NC_000006.12:g.108918496del, NC_000006.12:g.108918496dup, NC_000006.12:g.108918495_108918496dup, NC_000006.12:g.108918494_108918496dup, NC_000006.12:g.108918493_108918496dup, NC_000006.11:g.109239698_109239699del, NC_000006.11:g.109239699del, NC_000006.11:g.109239699dup, NC_000006.11:g.109239698_109239699dup, NC_000006.11:g.109239697_109239699dup, NC_000006.11:g.109239696_109239699dup
18.
rs1491051876 has merged into rs61688419 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:108882448
(GRCh38)
6:109203651
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108882438:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:108882438:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:108882438:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:108882438:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:108882438:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:108882438:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:108882438:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:108882438:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:108882438:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARMC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.1526/566
(TWINSUK)
A=0.1785/688
(ALSPAC)
A=0.3136/143
(NorthernSweden)
A=0.375/15
(GENOME_DK)
- HGVS:
NC_000006.12:g.108882448_108882453del, NC_000006.12:g.108882449_108882453del, NC_000006.12:g.108882450_108882453del, NC_000006.12:g.108882451_108882453del, NC_000006.12:g.108882452_108882453del, NC_000006.12:g.108882453del, NC_000006.12:g.108882453dup, NC_000006.12:g.108882452_108882453dup, NC_000006.12:g.108882447_108882453dup, NC_000006.11:g.109203651_109203656del, NC_000006.11:g.109203652_109203656del, NC_000006.11:g.109203653_109203656del, NC_000006.11:g.109203654_109203656del, NC_000006.11:g.109203655_109203656del, NC_000006.11:g.109203656del, NC_000006.11:g.109203656dup, NC_000006.11:g.109203655_109203656dup, NC_000006.11:g.109203650_109203656dup
19.
rs1491041706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 6:108885672
(GRCh38)
6:109206875
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108885670:CGC:C
- Gene:
- ARMC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00003/4
(GnomAD)
- HGVS:
20.
rs1491027565 has merged into rs35328272 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
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- Chromosome:
- 6:108965386
(GRCh38)
6:109286589
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108965371:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ARMC2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.108965386_108965388del, NC_000006.12:g.108965387_108965388del, NC_000006.12:g.108965388del, NC_000006.12:g.108965388dup, NC_000006.12:g.108965387_108965388dup, NC_000006.12:g.108965372_108965388T[19]GTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.108965386_108965388dup, NC_000006.12:g.108965383_108965388dup, NC_000006.12:g.108965380_108965388dup, NC_000006.12:g.108965379_108965388dup, NC_000006.12:g.108965376_108965388dup, NC_000006.12:g.108965374_108965388dup, NC_000006.12:g.108965373_108965388dup, NC_000006.11:g.109286589_109286591del, NC_000006.11:g.109286590_109286591del, NC_000006.11:g.109286591del, NC_000006.11:g.109286591dup, NC_000006.11:g.109286590_109286591dup, NC_000006.11:g.109286575_109286591T[19]GTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.109286589_109286591dup, NC_000006.11:g.109286586_109286591dup, NC_000006.11:g.109286583_109286591dup, NC_000006.11:g.109286582_109286591dup, NC_000006.11:g.109286579_109286591dup, NC_000006.11:g.109286577_109286591dup, NC_000006.11:g.109286576_109286591dup